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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SCOTTISH/ENGLISH/IRISH
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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 |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 1 |
606933.0002; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
PRO81LEU; In 6 of 30 unrelated patients with a tyrosinase-negative (type IA) oculocutaneous albinism, Giebel et al. [J. Med. Genet. 28: 464-467 (1990)] observed a CCT-to-CTT change in codon 81 resulting in a substitution of leucine for proline. |
| Remarks |
Compound heterozyg: type 1a/type 1b; wht hair at birth, yellow coloration gradually appeared in adolescence; nystagmus; decr visual acuity, & blue irides; 1 allele has a CCT (Pro) to CTT (Leu) substitution at codon 81 in exon 1 of the TYR gene [Pro81Leu (P81L)] |
| Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA, A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A87:3255-8 1990 |
| PubMed ID: 1970634 |
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| Hu F, Hanifin JM, Prescott GH, Tongue AC, Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. Am J Hum Genet32:387-95 1980 |
| PubMed ID: 6770679 |
| dbSNP |
dbSNP ID: 11543 |
| 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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