Species Human Entrez 54344 | Human Mouse Ensembl ENSG00000179085 | |
Aliases DPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3 External IDs MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3 | ||
dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.
Contents
Function
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.
Clinical significance
Mutations in this gene are associated with congenital disorder of glycosylation type 1O.
References
DPM3 Wikipedia(Text) CC BY-SA