PRKCSH
Identifiers
AliasesPRKCSH, AGE-R2, G19P1, PCLD, PKCSH, PLD1, GIIB, VASAP-60, protein kinase C substrate 80K-H, PCLD1
External IDsOMIM: 177060 MGI: 107877 HomoloGene: 2056 GeneCards: PRKCSH
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001293650
NM_001293651
NM_008925

RefSeq (protein)

NP_001280579
NP_001280580
NP_032951

Location (UCSC)Chr 19: 11.44 – 11.45 MbChr 9: 21.91 – 21.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.[5]

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130175 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003402 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: PRKCSH protein kinase C substrate 80K-H".

Further reading