SLC45A2

SLC45A2

A gene on chromosome 5p13.2 that encodes solute carrier family 45, member 2, which is a melanocyte differentiation antigen thought to transport substances required for melanin biosynthesis. It is expressed in most melanoma cell lines and melanocytes.

Molecular pathology
SLC45A2 mutation causes oculocutaneous albinism type 4.
References in periodicals archive ?
Polymorphisms detected in the tyrosinase and matp (slc45a2) genes did not explain coat colour dilution in a sample of Alpaca (Vicugna pacos).
Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus.
Until now, seven genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MC1R) and an uncharacterized OCA5 locus have been mapped on the human genome.2 At molecular level, these OCA protein products are involved in melanin metabolism and transport.
Various genetic studies to date identified six genes (TYR TYRP1 OCA2 SLC45A2 SLC24A5 C10orf11) and a locus (OCA5) for whom the candidate gene is yet to be known.
Key words: Oculocutaneous albinism melanin TYR TYRP1 OCA2 SLC45A2 SLC24A5 MC1R.
Several genes expression that is MCIR, SLC45A2, ASIP, TYR, OCA2, and SlC24A5 is involved in the variation of skin tones in humans due to difference in fraction in melanin units between Europeans and Africans.
There are four major forms: (i) OCA1 (mutated tyrosinase (TYR) gene); [12] (ii) OCA2 (mutated OCA2 gene); [13] (iii) OCA3 (mutated tyrosinase-related protein 1 (TYRP1) gene); [14] and (iv) OCA4 (mutated solute carrier family 45, member 2 (SLC45A2) gene).
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
The Spanish researchers sequenced the entire genome of snowflake and found a particular gene known as SLC45A2 as the cause behind the primate's albinism.
Those genetic analyses led them to a pigment gene, called SLC45A2, which had already been associated with light coloration in modern Europeans and in other animals, including horses, chickens, and fish.
9p23 lokusundaki TYRP1 (tyrosinase-related protein 1) genindeki mutasyon sonucu gorulen OCA3 (tip 3) ve 5p'deki SLC45A2 (eski adiyla MATP) geninde resesif ozellikte mutasyon sonucu gorulen OCA4 nadir okulokutanoz albinizm tipleridir.
That led them to a small mutation in a gene called SLC45A2, where just a single amino acid in an entire protein is changed.