Positive regulation by 'OCA2 [melanosome membrane]'

Stable Identifier
R-HSA-8878533
Type
PositiveRegulation
Locations in the PathwayBrowser
Summation

The melanocyte-specific transporter protein (OCA2, aka P protein, pink-eyed dilution protein homolog) is postulated to play a role in the processing and intracellular trafficking of tyrosinase (TYR) in the melanosome (Potterf et al. 1998, Toyofuku et al. 2002). It is a 110-kDa integral melanosomal protein with 12 predicted transmembrane domains, suggesting a transport function but its exact physiological role is still unknown. In humans, mutations in the OCA2 gene result in oculocutaneous albinism type 2, a disorder of pigmentation characterised by reduced biosynthesis of melanin in the skin, hair and eyes. This disorder is analogous to the pink-eyed dilution phenotype seen in mice with defective Oca2 (Toyofuku et al. 2002). A single SNP in the OCA2 gene is the major determinant of brown and/or blue eye colour (Sturm 2009).

Literature References
PubMed ID Title Journal Year
9770375 Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes

Potterf, SB, Furumura, M, Sviderskaya, EV, Santis, C, Bennett, DC, Hearing, VJ

Exp. Cell Res. 1998
12028586 The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

Toyofuku, K, Valencia, JC, Kushimoto, T, Costin, GE, Virador, VM, Vieira, WD, Ferrans, VJ, Hearing, VJ

Pigment Cell Res. 2002
19297406 Molecular genetics of human pigmentation diversity

Sturm, RA

Hum. Mol. Genet. 2009
Regulation participants
Regulation type
PositiveRegulation