LRMDA
Function
Required for melanocyte differentiation.
Involvement in disease
Albinism, oculocutaneous, 7
OCA7
A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells.
Alternative names
C10orf11, CDA017, LRMDA, Leucine-rich melanocyte differentiation-associated protein