C10orf11 gene

chromosome 10 open reading frame 11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Required for melanocyte differentiation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Albinism, oculocutaneous, type VII

From UniProt:

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. [MIM:615179]

Cytogenetic Location: 10q22.2-q22.3, which is the long (q) arm of chromosome 10 between positions 22.2 and 22.3

Molecular Location: base pairs 75,431,646 to 76,559,220 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.2-q22.3, which is the long (q) arm of chromosome 10 between positions 22.2 and 22.3
  • CDA017