功能: disease:A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).,disease:Defects in CDH15 are the cause of mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.,function:Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.,similarity:Contains 5 cadherin domains.,tissue specificity:Expressed in the brain and cerebellum.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cell membrane; Single-pass type I membrane protein.
功能: disease:A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).,disease:Defects in CDH15 are the cause of mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.,function:Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.,similarity:Contains 5 cadherin domains.,tissue specificity:Expressed in the brain and cerebellum.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cell membrane; Single-pass type I membrane protein.