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DefinitionThis section has been translated automatically.
The LRMDA gene (LRMDA stands for "Leucine Rich Melanocyte Differentiation Associated") is a protein-coding gene located at gene locus 10q22.2-q22.3. Alternatively spliced transcript variants have been identified.
General informationThis section has been translated automatically.
The LRMDA 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) (Gronskov K et al. 2013).
LiteratureThis section has been translated automatically.
- Gronskov K et al. (2013) Mutations in C10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am. J. Hum. Genet. 92: 415-421.
- Montoliu L et al. (2013) Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 27: 11-18.
