Gene: RPH3AL

Alternate names for this Gene: NOC2

Gene Summary: 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. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: rabphilin 3A like (without C2 domains)

Type of Gene: protein-coding

rs7207517 in RPH3AL gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs12945036 in RPH3AL gene and Pseudotumor Cerebri PMID 29608535 2019 Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension.