PRKCSH gene

protein kinase C substrate 80K-H

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

From UniProt:

Regulatory subunit of glucosidase II.

From NCBI Gene:

  • Congenital cystic disease of liver

From UniProt:

Polycystic liver disease 1 (PCLD1): An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. [MIM:174050]

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2

Molecular Location: base pairs 11,435,257 to 11,450,968 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2
  • AGE-R2
  • G19P1
  • GIIB
  • PCLD
  • PCLD1
  • PKCSH
  • PLD1
  • VASAP-60