OCA2
OCA2 melanosomal transmembrane protein
Ассоциированные заболевания
Роль в фенотипе4
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1ORPHA:177901
→Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2ORPHA:177904
→Angelman syndrome due to maternal 15q11q13 deletionORPHA:98794
→Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15ORPHA:98754
→Герминативная мутация (причина)1