DHDDS - dehydrodolichyl diphosphate synthase subunit Gene

Homo sapiens

Also known as DS; CIT; CPT; HDS; RP59; hCIT; DEDSM

Gene ID: 79947 | Gene type: protein coding

About DHDDS

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,432,321-26,471,306 (from NCBI)

This gene has 34 transcripts (splice variants), 211 orthologues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 22.0), colon (RPKM 11.7) and 24 other tissues.

Summary

The protein encoded by this gene 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. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

DHDDS Products(5)

mRNA	Protein	Name
NM_001243564.2	NP_001230493.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3
NM_001243565.2	NP_001230494.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 4
NM_001319959.2	NP_001306888.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 5
NM_024887.4	NP_079163.2	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2
NM_205861.3	NP_995583.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 1

DHDDS Protein Structure

Prenyltransf

0
100
200
300
333 a.a.

Protein Preferred Names

Protein Names

dehydrodolichyl diphosphate synthase complex subunit DHDDS

cis-IPTase

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 59

RP59	Congenital Disorder Of Glycosylation, Type 1bb
Congenital Disorder Of Glycosylation 1bb	CDG1BB
Retinitis Pigmentosa, Type 59

Developmental Delay And Seizures With Or Without Movement Abnormalities

DEDSM

Developmental Delay And Seizures, With/Without Movement Abnormalities

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Congenital Disorder Of Glycosylation, Type Im

Dolichol Kinase Deficiency	CDG1M
Dk1 Deficiency	Cdg Im
Cdgim	Congenital Disorder Of Glycosylation Im
Congenital Disorder Of Glycosylation 1m	Dolk-Congenital Disorder Of Glycosylation
Dk1-Cdg	Cdg-Im
Congenital Disorder Of Glycosylation Type Im	Cdg Syndrome Type Im
Carbohydrate Deficient Glycoprotein Syndrome Type Im	Congenital Disorder Of Glycosylation Type 1m
Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency	Glycosylation, Congenital Disorder Of, Type Im

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency	3-Phosphoglycerate Dehydrogenase Deficiency
PHGDHD	3-Pgdh Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Phgdh Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoglycerate Dehydrogenase

Coenzyme Q10 Deficiency, Primary, 9

COQ10D9

Primary Coenzyme Q10 Deficiency 9

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03728	DHDDS Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DHDDS	VGNC	VGNC:39928
Felis catus	DHDDS	VGNC	VGNC:61467
Macaca mulatta	DHDDS	VGNC	VGNC:71686
Mus musculus	DHDDS	MGD	MGI:1914672
Rattus norvegicus	DHDDS	RGD	RGD:1311560
Bos taurus	DHDDS	VGNC	VGNC:28035

Name
Email *

	Sorry, but the email address you supplied was invalid.