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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Ethnicity
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GERMAN
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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 positive result with a primer for Yq11, DYS227. |
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 1 |
606933.0004; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
ASP365ASN; This mutation was found by Spritz et al. (1990); see 203100.0003. In another numbering system this is referred to as ASP383ASN (King et al., 1991).
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 2 |
; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
1-BP INS, T, CODON 389 |
| Remarks |
Type Ia; absent pigment of skin, hair, & eyes; very low vision; nystagmus; strabismus; pos fam hx for OCA on both parents sides; no tyrosinase act in scalp hairbulbs; donor subject is a compound heterozygote: one allele has a GAT (Asp)>AAT (Asn) change at codon 365 (in another numbering system this was referred to as codon 383) of the TYR gene [Asp365Asn (D365N)]; the other allele has a frameshift caused by an ACT>ACTT at codon 389 |
| dbSNP |
dbSNP ID: 11530 |
| 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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