其他名称： GPR143; OA1; G-protein coupled receptor 143; Ocular albinism type 1 protein
分子量： 44kD
功能： disease:Defects in GPR143 are the cause of ocular albinism type 1 (OA1) [MIM:300500]; also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes.,function:Not known; binds heterotrimeric G proteins.,online information:GPR143 mutations,online information:Retina International's Scientific Newsletter,similarity:Belongs to the G-protein coupled receptor OA family.,subcellular location:Targeted to intracellular organelles, namely the melanosomes in pigment cells.,tissue specificity:Exclusively expressed in pigment cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Melanosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein . Apical cell membrane ; Multi-pass membrane protein . Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). .
组织表达： Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.
其他名称： GPR143; OA1; G-protein coupled receptor 143; Ocular albinism type 1 protein
分子量： 44kD
功能： disease:Defects in GPR143 are the cause of ocular albinism type 1 (OA1) [MIM:300500]; also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes.,function:Not known; binds heterotrimeric G proteins.,online information:GPR143 mutations,online information:Retina International's Scientific Newsletter,similarity:Belongs to the G-protein coupled receptor OA family.,subcellular location:Targeted to intracellular organelles, namely the melanosomes in pigment cells.,tissue specificity:Exclusively expressed in pigment cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Melanosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein . Apical cell membrane ; Multi-pass membrane protein . Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). .
组织表达： Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.
在线咨询
湘公网安备