Positive regulation by 'SLC45A2 [melanosome membrane]'

Stable Identifier
R-HSA-8878560
Type
PositiveRegulation
Locations in the PathwayBrowser
Summation

The membrane-associated transporter protein SLC45A2 (melanoma antigen AIM1, MATP) shows sequence and structural similarity to sucrose transport proteins yet its actual physiological substrate and role is still unclear. Mutations in SLC45A2 cause misrouting of tyrosinase similar to the cellular phenotype of OCA2 and cause oculocutaneous albinism type 4 (OCA4) (Cullinane et al. 2011).

Literature References
PubMed ID Title Journal Year
21677667 Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

Cullinane, AR, Vilboux, T, O'Brien, K, Curry, JA, Maynard, DM, Carlson-Donohoe, H, Ciccone, C

J. Invest. Dermatol. 2011
Regulation participants
Regulation type
PositiveRegulation