DPM2

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DPM2
Identifiers
Aliases DPM2, CDG1U, dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit, dolichyl-phosphate mannosyltransferase subunit 2, regulatory
External IDs MGI: 1330238 HomoloGene: 99726 GeneCards: DPM2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152690
NM_003863

NM_010073

RefSeq (protein)

NP_003854

NP_034203.1
NP_034203

Location (UCSC) Chr 9: 127.94 – 127.94 Mb Chr 2: 32.57 – 32.57 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene.[3]

Function[edit]

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins, defective N-linked glycosylation and deficient O-mannosylation of α-dystroglycan. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C-terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1.[3]

Clinical significance[edit]

Mutations in this gene are associated with congenital disorder of glycosylation.

References[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.