ST3GAL3

Source: Wikipedia, the free encyclopedia.
ST3GAL3
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001161774
NM_001285520
NM_001285521
NM_009176

RefSeq (protein)

NP_001155246
NP_001272449
NP_001272450
NP_033202

Location (UCSC)Chr 1: 43.71 – 43.93 MbChr 4: 117.79 – 117.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ST3 beta-galactoside alpha-2,3-sialyltransferase 3, also known as ST3GAL3, is a protein which in humans is encoded by the ST3GAL3 gene.[5][6]

Function

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of

substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Multiple transcript variants encoding several different isoforms have been found for this gene.[6]

Mutations in the ST3GAL3 gene was recently shown to be the cause of autosomal recessive mental retardation 12. Since the mutations disrupt a glycosylation pathway, this disorder may be considered a congenital disorder of glycosylation.

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126091Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028538Ensembl, 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. PMID 8333853
    .
  6. ^ a b "Entrez Gene: ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3".

Further reading