Description:
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| methionine adenosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.6 |
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| Gene |
MAT1A |
| Chromosomal Location |
10q22 |
| Allelic Variant 1 |
610550.0004; METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
| Identified Mutation |
LEU305PRO; From patient MG from whom cultured fibroblasts were deposited in the NIGMS mutant cell repository, Camden, New Jersey (GM00911), Ubagai et al. (1995) found that MAT deficiency was due to compound heterozygosity for 2 missense mutations in the AMS1 gene: a T-to-C mutation at nucleotide 914 in exon VII that converted leu305 to a pro (L305P) and a T-to-G transversion at nucleotide 966 VIII that converts ile322 to a met (I322M; 250850.0001). The patient MG was deficient in hepatic MAT activity while fibroblast MAT activity was normal.
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| Gene |
MAT1A |
| Chromosomal Location |
10q22 |
| Allelic Variant 2 |
610550.0001; METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
| Identified Mutation |
ILE322MET; In a patient with MAT deficiency, Ubagai et al. (1995) found homozygosity for a T-to-G transversion at nucleotide 966 in exon VIII that converted ile322 to a met (I322M). The patient was a Caucasian American female in whom the clinical details were described by Gaull et al. (1981).
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| Remarks |
Deficient hepatic methionine adenosyltransferase activity; normal activity in fibroblasts |
| Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY, Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. J Clin Invest96:1943-7 1995 |
| PubMed ID: 7560086 |
| dbSNP |
dbSNP ID: 22995 |
| Gene Cards |
MAT1A |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0004478 methionine adenosyltransferase activity |
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GO:0005524 ATP binding |
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GO:0006520 amino acid metabolism |
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GO:0006730 one-carbon compound metabolism |
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GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:4143 |
| NCBI GTR |
250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY |
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610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A |
| OMIM |
250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY |
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610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A |
| Omim Description |
HYPERMETHIONINEMIA, ISOLATED PERSISTENTMETHIONINE ADENOSYLTRANSFERASE 1, INCLUDED; MAT1A, INCLUDED; MATA1,INCLUDED |
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MAT DEFICIENCY |
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MATI/III DEFICIENCY |
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METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
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S-ADENOSYLMETHIONINE SYNTHETASE 1, INCLUDED; SAMS1, INCLUDED |
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SAMS, LIVER-SPECIFIC, INCLUDED |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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