Gene Symbol | LRMDA |
Entrez Gene ID | 83938 |
Full Name | leucine rich melanocyte differentiation associated |
Synonyms | C10orf11,CDA017 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. |
Disorder MIM: | |
Disorder Html: | Albinism, oculocutaneous, type VII, 615179 (3) |