SEL1L

Description

The SEL1L (SEL1L adaptor subunit of SYVN1 ubiquitin ligase) is a protein-coding gene located on chromosome 14.

SEL1L is a protein encoded by the SEL1L gene in humans. Mutations in this gene have been linked to cerebellar ataxia in Finnish Hound dogs. These mutations disrupt the endoplasmic reticulum in cells, leading to disease.

SEL1L plays a crucial role in the endoplasmic reticulum quality control (ERQC) system, also known as ER-associated degradation (ERAD). This system is responsible for the ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. SEL1L enhances the stability of SYVN1, a protein involved in ERAD. It also plays a role in the maturation and secretion of LPL, a lipoprotein lipase. SEL1L is essential for the normal differentiation of the pancreas epithelium, and for the normal exocrine function and survival of pancreatic cells. Additionally, SEL1L may play a role in Notch signaling.

SEL1L is also known as Hrd3, PRO1063, SEL1-LIKE, SEL1L1.

Associated Diseases

• cystic fibrosis
• holoprosencephaly
• endometrial cancer
• low grade glioma
• ovarian cancer
• esophageal cancer
• urinary bladder cancer
• vein disorder
• autosomal recessive spondylocostal dysostosis