SEC61B

Phenotypes

Human ciliopathy phenotype:

autosomal dominant polycystic liver disease

Ciliopathy associations

• Polycystic Liver Disease

Subcellular localization

endoplasmic reticulum

Functional category

• ER protein biogenesis
• Polycystin-1 trafficking

Function

Heterozygous loss-of-function variants in SEC61B were identified in autosomal dominant polycystic liver disease (ADPLD) by Besse et al. 2017 (PMID: 28375157). SEC61B is part of the protein biogenesis pathway in the endoplasmic reticulum; loss of SEC61B function impairs maturation and trafficking of polycystin-1, leading to hepatic cyst formation. The gene was identified after exome sequencing in a cohort of PCLD patients without PRKCSH or SEC63 mutations, alongside ALG8 and GANAB.