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DPM3
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.[5][6]
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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.[5]
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Clinical significance
Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[7]
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