Description:
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A
TYROSINASE; TYR
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| monophenol monooxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.18.1 |
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 1 |
T373K; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
THR373LYS |
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 2 |
606933.0016; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
ASN382LYS; In a case of type IA oculocutaneous albinism, Oetting et al. [Am. J. Hum. Genet. 49 199-206 (1991)] found a change in codon 382 from AAC to AAA resulting in substitution of lysine for asparagine. |
| Remarks |
Type 1a; absent skin & eye pigment; slightly yellow tinge to hair; nystagmus; strabismus; very low vision; deficient tyrosinase activity; donor subject is a compound heterozygote: one allele has a Thr to Lys change at codon 373 of the TYR gene [Thr373Lys (T373K)]; the other allele has an Asn to Lys change at codon 382 [Asn382Lys (N382K)] |
| dbSNP |
dbSNP ID: 11528 |
| Gene Cards |
TYR |
| Gene Ontology |
GO:0004503 monophenol monooxygenase activity |
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GO:0005798 Golgi vesicle |
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GO:0006583 melanin biosynthesis from tyrosine |
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GO:0006726 eye pigment biosynthesis |
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GO:0007601 visual perception |
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GO:0008152 metabolism |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:7299 |
| NCBI GTR |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
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606933 TYROSINASE; TYR |
| OMIM |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
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606933 TYROSINASE; TYR |
| Omim Description |
ALBINISM I |
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ALBINISM, OCULOCUTANEOUS, TYPE I |
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ALBINISM, OCULOCUTANEOUS, TYPE IA |
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ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED |
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ALBINISM, YELLOW MUTANT TYPE, INCLUDED |
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OCULOCUTANEOUS ALBINISM, TYPE I; OCA1 |
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OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATNTYROSINASE, INCLUDED; TYR, INCLUDED |
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YELLOW ALBINISM, INCLUDED |
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