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 th... See more...

Aliases for DHDDS Gene

Aliases for DHDDS Gene

  • Dehydrodolichyl Diphosphate Synthase Subunit 2 3 5
  • Dehydrodolichyl Diphosphate Synthase Complex Subunit DHDDS 3 4
  • Cis-Prenyltransferase Subunit HCIT 3 4
  • Epididymis Tissue Protein Li 189m 3 4
  • Cis-Isoprenyltransferase 3 4
  • Cis-IPTase 3 4
  • CIT 3 4
  • HDS 3 4
  • Dehydrodolichyl Diphosphate Syntase Complex Subunit DHDDS 3
  • Dehydrodolichyl Diphosphate Synthase 2
  • Cis-Prenyl Transferase 3
  • Dedol-PP Synthase 3
  • EC 2.5.1.87 4
  • DEDSM 3
  • RP59 3
  • HCIT 3
  • CPT 3
  • DS 3

External Ids for DHDDS Gene

Previous GeneCards Identifiers for DHDDS Gene

  • GC01P025991
  • GC01P026363
  • GC01P026442
  • GC01P026631
  • GC01P026758
  • GC01P025013

Summaries for DHDDS Gene

Entrez Gene Summary for DHDDS Gene

  • 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]

GeneCards Summary for DHDDS Gene

DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit) is a Protein Coding gene. Diseases associated with DHDDS include Retinitis Pigmentosa 59 and Developmental Delay And Seizures With Or Without Movement Abnormalities. Among its related pathways are Metabolism of proteins and Synthesis of substrates in N-glycan biosythesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.

UniProtKB/Swiss-Prot Summary for DHDDS Gene

  • With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).

Gene Wiki entry for DHDDS Gene

Additional gene information for DHDDS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHDDS Gene

Genomics for DHDDS Gene

GeneHancer (GH) Regulatory Elements for DHDDS Gene

Promoters and enhancers for DHDDS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHDDS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHDDS

Top Transcription factor binding sites by QIAGEN in the DHDDS gene promoter:
  • ARP-1
  • c-Myb
  • Nkx2-5
  • Sp1

Genomic Locations for DHDDS Gene

Genomic Locations for DHDDS Gene
chr1:26,432,282-26,471,306
(GRCh38/hg38)
Size:
39,025 bases
Orientation:
Plus strand
chr1:26,758,773-26,797,797
(GRCh37/hg19)
Size:
39,025 bases
Orientation:
Plus strand

Genomic View for DHDDS Gene

Genes around DHDDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHDDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHDDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHDDS Gene

Proteins for DHDDS Gene

  • Protein details for DHDDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SQ9-DHDDS_HUMAN
    Recommended name:
    Dehydrodolichyl diphosphate synthase complex subunit DHDDS
    Protein Accession:
    Q86SQ9
    Secondary Accessions:
    • B7Z4B9
    • B7ZB20
    • D3DPK7
    • D3DPK8
    • D3DPK9
    • E9KL43
    • Q5T0A4
    • Q8NE90
    • Q9BTG5
    • Q9BTK3
    • Q9H905

    Protein attributes for DHDDS Gene

    Size:
    333 amino acids
    Molecular mass:
    38657 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Forms an active dehydrodolichyl diphosphate synthase complex with NUS1 (PubMed:25066056, PubMed:28842490). Interacts with NPC2 (PubMed:21572394).
    Miscellaneous:
    • [Isoform 3]: May be due to exon skipping.

    Alternative splice isoforms for DHDDS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHDDS Gene

Post-translational modifications for DHDDS Gene

  • Ubiquitination at Lys5 and Lys320
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DHDDS Gene

Domains & Families for DHDDS Gene

Gene Families for DHDDS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DHDDS Gene

Blocks:
  • Di-trans-poly-cis-decaprenylcistransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DHDDS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57395, highly similar to Dehydrodolichyl diphosphate synthase (EC 2.5.1.-) (B7Z4B9_HUMAN)
  • Dehydrodolichyl diphosphate synthase (DHDDS_HUMAN)
  • Dehydrodolichyl diphosphate synthase (Q5T0A5_HUMAN)
  • Dehydrodolichyl diphosphate synthase (Q5T0A6_HUMAN)
  • Dehydrodolichyl diphosphate synthase, isoform CRA_b (Q5T0A7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86SQ9

UniProtKB/Swiss-Prot:

DHDDS_HUMAN :
  • Belongs to the UPP synthase family.
Family:
  • Belongs to the UPP synthase family.
genes like me logo Genes that share domains with DHDDS: view

Function for DHDDS Gene

Molecular function for DHDDS Gene

UniProtKB/Swiss-Prot Function:
With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,6E)-farnesyl diphosphate + n isopentenyl diphosphate = di-trans,poly-cis-polyprenyl diphosphate + n diphosphate; Xref=Rhea:RHEA:53008, Rhea:RHEA-COMP:13431, ChEBI:CHEBI:33019, ChEBI:CHEBI:128769, ChEBI:CHEBI:136960, ChEBI:CHEBI:175763; EC=2.5.1.87; Evidence={ECO:0000269 PubMed:25066056, ECO:0000269 PubMed:28842490};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phospholipids including cardiolipin, phosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and phosphatidylserine.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11.1 uM for isopentenyl diphosphate {ECO:0000269 PubMed:28842490}; KM=0.68 uM for (2E,6E)-farnesyl diphosphate {ECO:0000269 PubMed:28842490}; Note=Values were measured with the heterodimer. kcat is 0.58 sec(-1) with (2E,6E)-farnesyl diphosphate and isopentenyl diphosphate as substrate. {ECO:0000269 PubMed:28842490}; pH dependence: Optimum pH is 8-9. Active from pH 5.5 to 9.3. {ECO:0000269 PubMed:28842490};

Enzyme Numbers (IUBMB) for DHDDS Gene

Phenotypes From GWAS Catalog for DHDDS Gene

Gene Ontology (GO) - Molecular Function for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002094 contributes_to polyprenyltransferase activity IDA 25066056
GO:0005515 protein binding IPI 15110773
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
GO:0045547 dehydrodolichyl diphosphate synthase activity IDA 28842490
genes like me logo Genes that share ontologies with DHDDS: view
genes like me logo Genes that share phenotypes with DHDDS: view

Human Phenotype Ontology for DHDDS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHDDS Gene

MGI Knock Outs for DHDDS:
  • Dhdds Dhdds<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHDDS

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DHDDS Gene

Localization for DHDDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHDDS Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHDDS gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:1904423 dehydrodolichyl diphosphate synthase complex IDA 28842490
genes like me logo Genes that share ontologies with DHDDS: view

Pathways & Interactions for DHDDS Gene

genes like me logo Genes that share pathways with DHDDS: view

UniProtKB/Swiss-Prot Q86SQ9-DHDDS_HUMAN

  • Pathway: Protein modification; protein glycosylation.
  • Pathway: Lipid metabolism.

Gene Ontology (GO) - Biological Process for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006489 dolichyl diphosphate biosynthetic process TAS,IDA --
GO:0006629 lipid metabolic process IEA --
GO:0016094 polyprenol biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with DHDDS: view

No data available for SIGNOR curated interactions for DHDDS Gene

Drugs & Compounds for DHDDS Gene

(1) Drugs for DHDDS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
farnesyl diphosphate Experimental Pharma Agonist, Antagonist 0

(2) Additional Compounds for DHDDS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dehydrodolichol diphosphate
  • Ditrans,dicis-pentaprenyl diphosphate
  • 2-cis,6-cis,10-trans,14-trans-Pentaprenyl diphosphate
  • 2-cis,6-cis,10-trans,14-trans-Geranylfarnesyl diphosphate
  • Ditrans,dicis-pentaprenyl diphosphoric acid
  • Dehydrodolichol diphosphoric acid
Undecaprenyl diphosphate
  • Diphosphoric acid, mono(3,7,11,15,19,23,27,31,35,39,43-undecamethyl-2,6,10,14,18,22,26,30,34,38,42-tetratetracontaundecaenyl) ester
  • Undecaprenyl pyrophosphate
  • UndPP
  • Diphosphate, mono(3,7,11,15,19,23,27,31,35,39,43-undecamethyl-2,6,10,14,18,22,26,30,34,38,42-tetratetracontaundecaenyl) ester
  • Undecaprenyl diphosphoric acid
23-13-2
genes like me logo Genes that share compounds with DHDDS: view

Transcripts for DHDDS Gene

mRNA/cDNA for DHDDS Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHDDS

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHDDS Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - -
SP11:

Relevant External Links for DHDDS Gene

GeneLoc Exon Structure for
DHDDS

Expression for DHDDS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHDDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHDDS Gene

This gene is overexpressed in Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for DHDDS Gene

This gene is overexpressed in Breast (59.0) and Bone (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHDDS Gene



Protein tissue co-expression partners for DHDDS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHDDS

SOURCE GeneReport for Unigene cluster for DHDDS Gene:

Hs.369385

mRNA Expression by UniProt/SwissProt for DHDDS Gene:

Q86SQ9-DHDDS_HUMAN
Tissue specificity: Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.

Evidence on tissue expression from TISSUES for DHDDS Gene

  • Lung(4.4)
  • Muscle(4.4)
  • Thyroid gland(4.2)
  • Nervous system(4)
  • Skin(2.3)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHDDS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with DHDDS: view

Orthologs for DHDDS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHDDS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHDDS 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DHDDS 31 30
  • 93.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DHDDS 31 30
  • 90.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhdds 30
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Dhdds 17 31 30
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia DHDDS 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHDDS 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHDDS 31 30
  • 75.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHDDS 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhdds 30
  • 65.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398626 30
zebrafish
(Danio rerio)
Actinopterygii dhdds 31 30
  • 67.88 (n)
OneToOne
wufd56c06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6475 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012908 30
  • 59.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10778 31 30
  • 56.78 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T01G1.4 31 30
  • 50.79 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER003C 30
  • 48.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER2 33 31 30
  • 48.34 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17205g 30
  • 47.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G17570 30
  • 47 (n)
rice
(Oryza sativa)
Liliopsida Os06g0167400 30
  • 50.6 (n)
Os.7478 30
barley
(Hordeum vulgare)
Liliopsida Hv.5262 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03460 30
  • 55.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4D7.04c 30
  • 49.37 (n)
Species where no ortholog for DHDDS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DHDDS Gene

ENSEMBL:
Gene Tree for DHDDS (if available)
TreeFam:
Gene Tree for DHDDS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHDDS: view image

Paralogs for DHDDS Gene

No data available for Paralogs for DHDDS Gene

Variants for DHDDS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHDDS Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
642360 Uncertain Significance: Retinitis pigmentosa 59 26,469,109(+) G/A MISSENSE_VARIANT
645460 Uncertain Significance: Retinitis pigmentosa 59 26,469,022(+) G/C MISSENSE_VARIANT
729267 Likely Benign: not provided 26,432,990(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
729971 Benign: not provided 26,469,037(+) C/T MISSENSE_VARIANT
745841 Likely Benign: not provided 26,433,002(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DHDDS Gene

Structural Variations from Database of Genomic Variants (DGV) for DHDDS Gene

Variant ID Type Subtype PubMed ID
nsv945841 CNV duplication 23825009
nsv947418 CNV duplication 23825009

Variation tolerance for DHDDS Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.81; 91.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHDDS Gene

Human Gene Mutation Database (HGMD)
DHDDS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHDDS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHDDS Gene

Disorders for DHDDS Gene

MalaCards: The human disease database

(8) MalaCards diseases for DHDDS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DHDDS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHDDS_HUMAN
  • Retinitis pigmentosa 59 (RP59) [MIM:613861]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:21295283}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Developmental delay and seizures with or without movement abnormalities (DEDSM) [MIM:617836]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. {ECO:0000269 PubMed:29100083}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHDDS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DHDDS: view

No data available for Genatlas for DHDDS Gene

Publications for DHDDS Gene

  1. A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity. (PMID: 28842490) Grabińska KA … Sessa WC (The Journal of biological chemistry 2017) 2 3 4 54
  2. Identification of human dehydrodolichyl diphosphate synthase gene. (PMID: 12591616) Endo S … Koyama T (Biochimica et biophysica acta 2003) 2 3 4 54
  3. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. (PMID: 25066056) Park EJ … Sessa WC (Cell metabolism 2014) 3 4 54
  4. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (PMID: 21295283) Züchner S … Peričak-Vance MA (American journal of human genetics 2011) 3 4 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for DHDDS Gene

  • Signalway ELISA kits for DHDDS
  • Signalway Proteins for DHDDS

Sources for DHDDS Gene