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  • Enzyme

Enzyme

ALP
https://enzyme.expasy.org/EC/3.1.3.1

Catalog IDDescriptionPercent Normal ActivitySpecimen AssayedRemark
GM01571HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM01571HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM03336HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03459HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM03459HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03502HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03859HYPOPHOSPHATASIA, INFANTILE fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM04235HYPOPHOSPHATASIA, INFANTILE fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM04235HYPOPHOSPHATASIA, INFANTILE serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08371HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08372HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08581HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08690HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM08697HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08698HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 serumAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM09032HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09033HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09442HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsWeiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09919HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10403HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 amniotic fluidAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10474HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10507HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 fibroblastsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM20255HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT  According to the submitter, biochemical test results for this subject showed increased enzyme activity.
GM20926INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM21751INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21752INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21827INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21829INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22028INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22029INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22040INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22041INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22078INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22079INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22084INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22085INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22237INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22238INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22239INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22240INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22245INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22246INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22247INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22248INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22368INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22369INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22393INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22394INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22395INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22396INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22549INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22550INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22551INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22554INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22578INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22580INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22582INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22599INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22600INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22660INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22661INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22756INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22757INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22762INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22763INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22764INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD  According to the submitter biochemical test results for this subject showed normal enzyme activity.

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