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MDDGC15
Chr 1dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Also known as: CDG1O, MDDGB15, MDDGC15
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]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MDDGC15?content-type=application/json
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
MDDGC15 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
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