Gene: SEC16A

Alternate names for this Gene: KIAA0310|SEC16L|p250

Gene Summary: This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: SEC16 homolog A, endoplasmic reticulum export factor

Type of Gene: protein-coding

Gene: INPP5E

Alternate names for this Gene: CORS1|CPD4|JBTS1|MORMS|PPI5PIV|pharbin

Gene Summary: The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: inositol polyphosphate-5-phosphatase E

Type of Gene: protein-coding