功能： developmental stage:Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.,disease:Defects in PCDH19 are the cause of epilepsy, female-restricted, with mental retardation (EFMR) [MIM:300088]; also known as convulsive disorder and mental retardation. EFMR is a condition characterized by seizure onset in infancy or early childhood and cognitive impairment. The disorder is sex-limited, with the phenotype being restricted to females. Males are apparently spared.,function:Potential calcium-dependent cell-adhesion protein.,similarity:Contains 6 cadherin domains.,tissue specificity:Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
功能： developmental stage:Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.,disease:Defects in PCDH19 are the cause of epilepsy, female-restricted, with mental retardation (EFMR) [MIM:300088]; also known as convulsive disorder and mental retardation. EFMR is a condition characterized by seizure onset in infancy or early childhood and cognitive impairment. The disorder is sex-limited, with the phenotype being restricted to females. Males are apparently spared.,function:Potential calcium-dependent cell-adhesion protein.,similarity:Contains 6 cadherin domains.,tissue specificity:Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
在线咨询
湘公网安备