DPM3 gene

dolichyl-phosphate mannosyltransferase subunit 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1O

From UniProt:

Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15): An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. [MIM:612937]

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22

Molecular Location: base pairs 155,139,891 to 155,140,573 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22