DPM1


Description

The DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic) is a protein-coding gene located on chromosome 20.

Dolichol-phosphate mannosyltransferase is an enzyme encoded by the DPM1 gene in humans. It catalyzes the synthesis of dolichol-phosphate mannose (Dol-P-Man) on the cytosolic side of the endoplasmic reticulum (ER). Dol-P-Man is a critical donor of mannosyl residues on the lumenal side of the ER, and its deficiency leads to defective surface expression of GPI-anchored proteins. DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence, and its activity is regulated by DPM2.

DPM1 is also known as CDGIE, MPDS.

Associated Diseases


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