LRMDA

Chr 10

leucine rich melanocyte differentiation associated

Also known as: C10orf11, CDA017

NCBI Gene: 83938 ENSG00000148655 UniProt: Q9H2I8

This leucine-rich repeat protein is required for melanocyte differentiation. Biallelic mutations cause autosomal recessive oculocutaneous albinism type VII, affecting both skin pigmentation and ocular development. The gene shows low constraint to loss-of-function variants in the general population.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAlbinism, oculocutaneous, 7

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.20

LOEUF

LOF

Mechanism· G2P

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