基因名称(Gene Name)
PCDH19 KIAA1313
免疫原
Synthesized peptide derived from human PCD19 AA range: 841-891
特异性
This antibody detects endogenous levels of PCD19 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010],
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.,
