Primary Identifier | MGI:2677271 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 317750 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion transmembrane transporter activity. Involved in calcium ion import. Acts upstream of or within negative regulation of melanin biosynthetic process. Predicted to be located in melanosome and membrane. Predicted to be active in trans-Golgi network. Is expressed in several structures, including adrenal gland; brain; gonad; sensory organ; and submandibular gland. Used to study ocular albinism 1. Human ortholog(s) of this gene implicated in oculocutaneous albinism type VI. Orthologous to human SLC24A5 (solute carrier family 24 member 5). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators] |