What Protein Do Albinos Lack

OCA1, or tyrosinase-related albinism, results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change the amino acid, tyrosine, into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1.

What do Albinos lack in their body?

The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) — a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes.

What protein does the albinism gene encode?

This gene encodes P protein, a 110-kDa integral melanosomal protein with 12 predicted transmembrane domains and consists of 838 amino acids [27, 31, 32]. The P protein acts as a precursor to melanin synthesis, within the melanocyte, and serves as a key control point at which ethnic skin colour variation is determined.