| MPDU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MPDU1 , CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, mannose-P-dolichol utilization defect 1, SLC66A5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604041 MGI: 1346040 HomoloGene: 3581 GeneCards: MPDU1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene. [5] [6] [7] [8]
A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. The most common sub-type is PMM2-CDG where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.
In enzymology, a dolichol kinase is an enzyme that catalyzes the chemical reaction
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.
Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.
Conserved oligomeric Golgi complex subunit 7 is a protein that in humans is encoded by the COG7 gene.
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.
Dolichol-phosphate mannosyltransferase is an enzyme that in humans is encoded by the DPM1 gene.
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT2 gene.
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.
NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 is an enzyme that in humans is encoded by the NDUFS5 gene.
28S ribosomal protein S17, mitochondrial is a protein that in humans is encoded by the MRPS17 gene.
GPI mannosyltransferase 3 is an enzyme that in humans is encoded by the PIGB gene.
Eukaryotic translation elongation factor 1 epsilon-1 is a protein that in humans is encoded by the EEF1E1 gene.
Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.
Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.
dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.
Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene.
Asparagine-linked glycosylation protein 11 is an enzyme encoded by the ALG11 gene.
Steroid 5-alpha-reductase 3, also known as 3-oxo-5-alpha-steroid 4-dehydrogenase 3, is an enzyme that in humans is encoded by the SRD5A3 gene. It is one of three forms of 5α-reductase.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |
