SLC45A2

Description

The SLC45A2 gene, also known as MATP, plays a crucial role in the production of melanin, the pigment responsible for skin, hair, and eye color. It encodes a protein that acts as a transporter, moving a molecule called dopachrome into melanosomes, the organelles where melanin synthesis occurs. This transport process is essential for the proper formation and distribution of melanin, ultimately impacting pigmentation. Mutations in the SLC45A2 gene can lead to various pigmentation disorders, highlighting its significance in human biology.

Associated Diseases

• Oculocutaneous albinism type 4 (OCA4)
• Hypopigmentation
• Leucism
• Griscelli syndrome type 3
• Partial albinism

Did you know?

SLC45A2 gene mutations are responsible for the rare ‘golden‘ phenotype found in some people with albinism, where their hair and skin have a yellowish hue.