SLC24A5 gene

solute carrier family 24 member 5

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

From NCBI Gene:

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]

From UniProt:

Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Skin/hair/eye pigmentation, variation in, 4

From UniProt:

Albinism, oculocutaneous, 6 (OCA6): A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. [MIM:113750]

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1

Molecular Location: base pairs 48,120,972 to 48,142,392 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1
  • JSX
  • NCKX5
  • OCA6
  • SHEP4