PCD19 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes Diseases associated with TUBA8 include

Diseases associated with TUBA8 include Cortical Dysplasia

Has a two domain structure: the G-domain binds GTP

The protein encoded also exhibits antimicrobial activity against bacteria

CA VIII and CA X

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells

PCD19 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes Diseases associated with TUBA8 includeThe 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.