STAMBPL1
Description
The STAMBPL1 (STAM binding protein like 1) is a protein-coding gene located on chromosome 10.
The STAMBPL1 gene in humans encodes for the AMSH-like protease enzyme.
STAMBPL1 encodes a zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. It plays a crucial role in regulating the TORC1 signaling pathway by deubiquitinating SESN2, preventing its interaction with the GATOR2 complex. This enzyme does not cleave 'Lys-48'-linked polyubiquitin chains.
STAMBPL1 is also known as ALMalpha, AMSH-FP, AMSH-LP, bA399O19.2.
Associated Diseases
- familial thoracic aortic aneurysm and aortic dissection
- multisystemic smooth muscle dysfunction syndrome
- Moyamoya disease
- ovarian cancer
- cancer
