Membrane-associated transporter protein (MATP), also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1, is a protein that in humans is encoded by the SLC45A2 gene. [5] [6] [7] In human, the SLC45A2 gene is located on …

The SLC45A2 gene (also called MATP ) provides instructions for making a protein that is located in specialized cells called melanocytes. Learn about this gene and related health conditions.

Mar 30, 2025 · SLC45A2 (Solute Carrier Family 45 Member 2) is a Protein Coding gene. Diseases associated with SLC45A2 include Albinism, Oculocutaneous, Type Iv and Skin/Hair/Eye Pigmentation, Variation In, 5 . Among its related pathways are …

Feb 8, 2025 · Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9). We identitified a single missense substitution in SLC45A2 in 13 families with oculocutaneous albinism.

Aug 1, 2017 · SLC45A2 (also referred to as AIM1 or MATP) is associated with dark skin, hair, and eye pigmentation. In humans, a pathogenic mutation of SLC45A2 leads to type IV oculocutaneous albinism (OCA4; refs. 9, 12–14). SLC45A2 variants have been associated with …

Sep 24, 2020 · SLC45A2 encodes a putative transporter expressed primarily in pigment cells. SLC45A2 mutations cause oculocutaneous albinism type 4 (OCA4) and polymorphisms are associated with pigmentation variation, but the localization, function, and regulation of SLC45A2 and its variants remain unknown. We show that SLC45A2 localizes to a cohort of mature ...

This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population. Human pigmentation appears to be one of the strongest risk factors for malignant melanoma (MM). In humans, there is a long list of genes known to be involved in rare pigmentary disorders such as albinism.

Title: SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity. Evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from ...

SLC45A2 is an H(+)-dependent sugar transporter (Bartolke et al., 2014). Cloning and Expression Harada et al. (2001) identified an antigen in human melanoma that they called AIM1 protein.

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.