PRKCSH PRKCSH beta subunit of glucosidase II

Gene ID: 5589, updated on 17-Sep-2024
Gene type: protein coding
Also known as: GIIB; PCLD; PLD1; 80K-H; G19P1; PCLD1; PKCSH; AGE-R2; GIIbeta; VASAP-60; GluIIbeta

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Polycystic liver disease 1 MedGen: C0887850OMIM: 174050GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.2

Sequence:: Chromosome: 19; NC_000019.10 (11435635..11450968)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRKCSH variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PRKCSH database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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