SYNJ2BP
Description
The SYNJ2BP (synaptojanin 2 binding protein) is a protein-coding gene located on chromosome 14.
Synaptojanin-2-binding protein is a protein encoded by the SYNJ2BP gene in humans. It has been shown to interact with ACVR2A, ACVR2B, LRP1, and LRP2.
SYNJ2BP regulates the internalization of activin type 2 receptor kinases through a pathway involving Ral and RALBP1. It may also play a role in reducing the signaling effects of activin.
SYNJ2BP is also known as ARIP2, OMP25.
Associated Diseases
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- hypercholesterolemia, autosomal dominant, 3
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- hypercholesterolemia, autosomal dominant, type B
