RBP1
Description
The RBP1 (retinol binding protein 1) is a protein-coding gene located on chromosome 3.
RBP1, encoded by the RBP1 gene, is a protein that transports retinol (vitamin A alcohol) from the liver to peripheral tissues. Vitamin A is crucial for growth, reproduction, epithelial tissue differentiation, and vision. The gene has four exons, and its second intervening sequence spans 19 kb of the 21 kb gene. CRBP-1 maintains endometrial cell differentiation by regulating retinol bioavailability. Loss of CRBP-1 is associated with endometrial cancer development.
Cytoplasmic retinol-binding protein. Accepts retinol from the transport protein STRA6, contributing to retinol uptake, storage and retinoid homeostasis. Interacts with STRA6 as retinol-free apoprotein.
RBP1 is also known as CRABP-I, CRBP, CRBP1, CRBPI, RBPC, hCRBP1.
Associated Diseases
- Leber congenital amaurosis
- cancer
- breast cancer
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- exercise-induced hyperinsulinism
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- hyperinsulinism due to INSR deficiency
- substance abuse
