| DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | DHDDS , CIT, CPT, DS, HDS, RP59, Dehydrodolichyl diphosphate synthase, dehydrodolichyl diphosphate synthase subunit, DEDSM, hCIT | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608172 MGI: 1914672 HomoloGene: 32615 GeneCards: DHDDS | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene. [5] [6]
Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. [6]
It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa. [7] Since it is involved in the early steps of dolichol synthesis, vital e.g. for correct N-glycosylation, a disease caused by mutations in DHDDS should be considered a congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs). [8] Many CDG subtypes present with retinitis pigmentosa as a major feature. [9]
In enzymology, a dolichol kinase is an enzyme that catalyzes the chemical reaction
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.
Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene. Mutations in the human gene are associated with congenital defects in glycosylation The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase.
CMP-sialic acid transporter is a protein that in humans is encoded by the SLC35A1 gene.
Pregnancy-specific beta-1-glycoprotein 5 is a protein that in humans is encoded by the PSG5 gene.
Aquaporin-7 (AQP-7) is a protein that in humans is encoded by the AQP7 gene.
Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene.
Decaprenyl-diphosphate synthase subunit 1 is an enzyme that in humans is encoded by the PDSS1 gene.
Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 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.
Suppressor of cytokine signaling 6 is a protein that in humans is encoded by the SOCS6 gene.
Vasohibin-1 is a protein that in humans is encoded by the VASH1 gene.
Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.
Sialic acid synthase is an enzyme that in humans is encoded by the NANS gene.
Proteasome assembly chaperone 1 is a protein that in humans is encoded by the PSMG1 gene.
Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.
Lecithin retinol acyltransferase is an enzyme that in humans is encoded by the LRAT gene.
Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the PDSS2 gene.
Ditrans,polycis-polyprenyl diphosphate synthase is an enzyme with systematic name (2E,6E)-farnesyl-diphosphate:isopentenyl-diphosphate cistransferase . This enzyme catalyses the following chemical reaction
