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PMID:8302318
| Citation |
Lee, ST, Nicholls, RD, Bundey, S, Laxova, R, Musarella, M and Spritz, RA (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N. Engl. J. Med. 330:529-34 |
|---|---|
| Abstract |
Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13. The frequency of this disorder is greatly increased in patients with Prader-Willi or Angelman syndrome, both of which involve deletions of chromosome 15q. The P protein is a transmembrane polypeptide that may transport small molecules such as tyrosine, the precursor of melanin. The P gene is located in chromosome segment 15q11-q13. |
| Links |
PubMed Online version:10.1056/NEJM199402243300803 |
| Keywords |
Albinism/genetics; Albinism, Ocular/genetics; Albinism, Oculocutaneous/genetics; Amino Acid Sequence; Base Sequence; Carrier Proteins/genetics; Child; Child, Preschool; Codon; Female; Humans; Male; Membrane Proteins/genetics; Membrane Transport Proteins; Molecular Sequence Data; Monophenol Monooxygenase/genetics; Mutation; Pedigree; Polymorphism, Genetic/genetics; Prader-Willi Syndrome/genetics |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
enables |
GO:0005215: transporter activity |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
|
F |
Seeded From UniProt |
complete | ||
See also
References
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