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FLASH GENE
Symbol OCA2 contributors: mct/npt - updated : 15-11-2018
HGNC name oculocutaneous albinism II
HGNC id 8101
ASSOCIATED DISORDERS
corresponding disease(s) OCA2 , PWS , AS , HECD
related resource AlbinismDatabase
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
associated with mutation of OCA2 in oculocutaneous albinism with red hair
constitutional       loss of function
can significantly change the melanosomal morphology, types and their respective numbers, and provided a novel strategy for the control of melanin synthesis
constitutional     --low  
disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes
Susceptibility
  • to skin cancer (melanoma), in addition to MC1R
  • to blue/nonblue eye color
  • to variation of skin pigmentation
  • Variant & Polymorphism SNP
  • polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the TGT haplotype within the intron 1 of with blue eye color
  • variant located within the gene OCA2 (rs1800414) is associated with skin pigmentation in two samples of East Asian ancestry (Edwards 2010)
  • Candidate gene for fair complexion in Deleted PWS and AS patients
    Marker
    Therapy target
    ANIMAL & CELL MODELS