Anon
10/19/25, 04:14No.519253512 genes involved in european whiteness:- SLC24A5: A major contributor to lighter skin in Europeans, where a specific variant (e.g., Ala111Thr) is nearly fixed in European populations and reduces melanin production. This gene encodes a potassium-dependent sodium-calcium exchanger involved in melanocyte calcium homeostasis.
- SLC45A2 (also known as MATP): Associated with lighter skin tones through variants that impair melanin synthesis and transport in melanosomes.
- OCA2 (influenced by HERC2): The OCA2 gene affects melanin production, while the nearby HERC2 gene contains a regulatory variant (rs12913832) that reduces OCA2 expression, leading to lighter skin, hair, and eye color.
- MC1R: Involved in switching between eumelanin (dark) and pheomelanin (red/yellow) production; variants are linked to fair skin, freckles, and red hair.
- Other notable genes: IRF4 (regulates tyrosinase expression), ASIP (antagonizes MC1R), and TYRP1 (stabilizes tyrosinase for melanin synthesis) also play roles, though with smaller effects.genes that can cause albinism:- OCA1: Caused by mutations in the TYR gene, which encodes tyrosinase, the rate-limiting enzyme in melanin production.
- OCA2: Caused by mutations in the OCA2 gene, which regulates melanosome pH and maturation.
- OCA3: Caused by mutations in the TYRP1 gene, involved in stabilizing tyrosinase and eumelanin production.
- OCA4: Caused by mutations in the SLC45A2 gene, which transports substances needed for melanin synthesis.
- OCA6: Caused by mutations in the SLC24A5 gene, affecting calcium transport in melanosomes.
- OCA7: Caused by mutations in the LRMDA (C10orf11) gene, which may regulate melanocyte differentiation.
- OCA8: Caused by mutations in the DCT (TYRP2) gene, involved in melanin polymerization.
