DPM3

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Dolichyl-phosphate mannosyltransferase polypeptide 3
Identifiers
Symbols DPM3 ; CDG1O
External IDs OMIM605951 MGI1915813 HomoloGene17810 ChEMBL: 3410 GeneCards: DPM3 Gene
EC number 2.4.1.83
Orthologs
Species Human Mouse
Entrez 54344 68563
Ensembl ENSG00000179085 ENSMUSG00000042737
UniProt Q9P2X0 Q9D1Q4
RefSeq (mRNA) NM_018973 NM_026767
RefSeq (protein) NP_061846 NP_081043
Location (UCSC) Chr 1:
155.11 – 155.11 Mb
Chr 3:
89.26 – 89.27 Mb
PubMed search [1] [2]

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.[1][2]

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. 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 subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex.[1]

Clinical significance[edit]

Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[3]

References[edit]

  1. ^ a b "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3". 
  2. ^ Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (June 2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475–82. doi:10.1093/emboj/19.11.2475. PMC 212771. PMID 10835346. 
  3. ^ Haeuptle MA, Hennet T (December 2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides". Hum. Mutat. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844. 

Further reading[edit]

External links[edit]


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