SLC24A5

Description

The SLC24A5 gene, located on chromosome 15, encodes a protein that acts as a sodium-dependent calcium exchanger. This protein plays a crucial role in maintaining calcium homeostasis within cells, particularly in skin melanocytes. Notably, SLC24A5 is directly linked to human skin pigmentation, with variations in this gene contributing to the diverse range of skin tones observed globally. Its influence extends beyond pigmentation, impacting cellular processes like calcium signaling and even influencing the efficacy of certain medications.

Associated Diseases

• Pigmentation disorders like vitiligo and albinism
• Calcium-related diseases like hypocalcemia and hypercalcemia
• Potential associations with certain cancers

Did you know?

A single nucleotide polymorphism (SNP) in SLC24A5, known as rs1426654, is responsible for approximately 25% of the variation in skin pigmentation observed between Europeans and Africans.