Gene: STX1B

Alternate names for this Gene: GEFSP9|STX1B1|STX1B2

Gene Summary: The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: syntaxin 1B

Type of Gene: protein-coding

Gene: HSD3B7

Alternate names for this Gene: CBAS1|PFIC4|SDR11E3

Gene Summary: This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Type of Gene: protein-coding