RPH3AL
Description
The RPH3AL (rabphilin 3A like (without C2 domains)) is a protein-coding gene located on chromosome 17.
Rab effector Noc2 is a protein that in humans is encoded by the RPH3AL gene.
RPH3AL (Rabphilin-3A-like protein) is a Rab GTPase effector that plays a role in the late stages of regulated exocytosis in both endocrine and exocrine cells. It acts as a potential RAB3B effector protein in epithelial cells.
RPH3AL is also known as NOC2.
Associated Diseases
- benign lipomatous neoplasm
- diabetes mellitus, transient neonatal, 2
- exercise-induced hyperinsulinism
- type 2 diabetes mellitus
- type 1 diabetes mellitus
- hyperinsulinemic hypoglycemia, familial, 2
- hyperinsulinism due to glucokinase deficiency
- renal cysts and diabetes syndrome
- GCGR-related hyperglucagonemia
- islet cell adenomatosis
- hyperinsulinemic hypoglycemia, familial, 1
- pancreatic agenesis 2
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- diabetes mellitus, permanent neonatal 4
