PCSK1N
Description
The PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor) is a protein-coding gene located on chromosome X.
PCSK1N, also known as ProSAAS, plays a crucial role in regulating the neuroendocrine secretory pathway. It acts as a specific endogenous inhibitor of PCSK1, primarily targeting the 84 kDa form of the enzyme. ProSAAS and its related peptide Big PEN-LEN, both containing a C-terminal inhibitory domain, exert their inhibitory effects in the endoplasmic reticulum and Golgi apparatus. This inhibition is thought to be modulated by the processing of proSAAS, with the initial form being more inhibitory. The inhibitory activity of ProSAAS affects the processing of proopiomelanocortin and proenkephalin, potentially controlling the timing of PCSK1 activity rather than its overall level.
PCSK1N is also known as BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII.
Associated Diseases
- N-acetylaspartate deficiency
- intellectual disability, autosomal recessive 58
- spinocerebellar ataxia type 27
- 15q11q13 microduplication syndrome
- intellectual disability, autosomal dominant 50
- liver cancer
- liver and intrahepatic bile duct neoplasm
