Feb 8, 2025 · the variant allele c.1122C>G was associated with protection from MM, was consistently linked with dark hair, dark skin, dark eye color, solar lentigins and childhood sunburns, and is a melanoma susceptibility gene in a light-skinned population.

The SLC45A2 gene (also called MATP) provides instructions for making a protein that is located in specialized cells called melanocytes. These cells produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color.

Sep 11, 2020 · In this study, genes and regulatory regions surrounding the pigmentary genes SLC24A4, TYRP1, SLC24A5, IRF4, TYR, and SLC45A2, as well as the upstream region of OCA2 within HERC2 were investigated with massively parallel sequencing (MPS) in 40 rs12913832:GG individuals with different eye colours that were determined by quantitative eye colour ...

Mar 30, 2025 · This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color.

Mar 6, 2007 · Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is …

This association was validated by the consistent link observed with dark hair, dark skin, dark eye color, and the presence of solar lentigins and childhood sunburns. This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.

By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. DISEASE: Defects in SLC45A2 are the cause of albinism oculocutaneous type …

The 2 alleles, leu374 and lys272, were significantly associated with dark hair, skin, and eye color in Caucasians (SHEP5; 227240). The odds ratios of the leu/leu genotype for black hair and olive skin were 25.63 and 28.65, respectively, and for the …

The SLC45A2 gene, also known as MATP, plays a crucial role in melanin production, the pigment responsible for skin, hair, and eye color. This gene encodes a protein that acts as a transporter, facilitating the movement of specific molecules into melanosomes, the organelles where melanin synthesis occurs.

The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively.