DPM3
dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.
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
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
This article incorporates text from the United States National Library of Medicine, which is in the public domain.