PRKCSH PRKCSH beta subunit of glucosidase II
Gene ID: 5589, updated on 17-Sep-2024Gene type: protein coding
Also known as: GIIB; PCLD; PLD1; 80K-H; G19P1; PCLD1; PKCSH; AGE-R2; GIIbeta; VASAP-60; GluIIbeta
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- Go to complete Gene record for PRKCSH
- Go to Variation Viewer for PRKCSH variants
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
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Description | Tests |
---|---|
Polycystic liver disease 1 | See labs |
Genomic context
- Location:
- 19p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (11435635..11450968)
- Total number of exons:
- 18
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PRKCSH database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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