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PMID:21996312
| Citation |
Yamada, M, Sakai, K, Hayashi, M, Hozumi, Y, Abe, Y, Kawaguchi, M, Ihn, H and Suzuki, T (2011) Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. J. Dermatol. Sci. 64:217-22 |
|---|---|
| Abstract |
Oculocutaneous albinism (OCA) type 3 caused by mutations of the TYRP1 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. The clinical phenotype has been reported as mild in Caucasian OCA3 patients. |
| Links |
PubMed Online version:10.1016/j.jdermsci.2011.09.005 |
| Keywords |
Albinism, Oculocutaneous/enzymology; Albinism, Oculocutaneous/ethnology; Albinism, Oculocutaneous/genetics; Animals; Asian Continental Ancestry Group/genetics; Cells, Cultured; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Infant; Japan; Melanins/metabolism; Melanocytes/enzymology; Membrane Glycoproteins/genetics; Membrane Glycoproteins/metabolism; Mice; Mutation, Missense; Oxidoreductases/genetics; Oxidoreductases/metabolism; Phenotype; Skin Pigmentation/genetics; Transfection |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0048023: positive regulation of melanin biosynthetic process |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
| GO:0048023: positive regulation of melanin biosynthetic process |
ECO:0000315: |
P |
Based on results in Fig. 2C |
complete | ||||
See also
References
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