Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SRD5A3 Gene

Aliases for SRD5A3 Gene

  • Steroid 5 Alpha-Reductase 3 2 3 5
  • 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 3 3 4
  • SR Type 3 3 4
  • SRD5A2L 3 4
  • S5AR 3 3 4
  • Steroid 5-Alpha-Reductase 2-Like 4
  • Probable Polyprenol Reductase 3
  • Steroid 5-Alpha-Reductase 3 4
  • Polyprenol Reductase 3
  • EC 1.3.1.94 4
  • EC 1.3.1.22 4
  • SRD5A2L1 3
  • CDG1P 3
  • CDG1Q 3
  • KRIZI 3

External Ids for SRD5A3 Gene

Previous GeneCards Identifiers for SRD5A3 Gene

  • GC04P055908
  • GC04P056212
  • GC04P052161

Summaries for SRD5A3 Gene

Entrez Gene Summary for SRD5A3 Gene

  • The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]

GeneCards Summary for SRD5A3 Gene

SRD5A3 (Steroid 5 Alpha-Reductase 3) is a Protein Coding gene. Diseases associated with SRD5A3 include Kahrizi Syndrome and Congenital Disorder Of Glycosylation, Type Iq. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors and 3-oxo-5-alpha-steroid 4-dehydrogenase activity.

UniProtKB/Swiss-Prot for SRD5A3 Gene

  • Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).

Tocris Summary for SRD5A3 Gene

Gene Wiki entry for SRD5A3 Gene

Additional gene information for SRD5A3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRD5A3 Gene

Genomics for SRD5A3 Gene

GeneHancer (GH) Regulatory Elements for SRD5A3 Gene

Promoters and enhancers for SRD5A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I055345 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 569.7 +0.8 807 2.6 SMAD1 ARNT ARID4B SIN3A DMAP1 POLR2B ZNF766 ZNF207 ZNF143 MXD4 SRD5A3 TMEM165 FCF1P8
GH04I055394 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 +51.2 51181 4.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 TMEM165 GC04P055398 SRD5A3-AS1 CEP135 RN7SKP30 CLOCK AASDH SRD5A3 NMU ENSG00000272969
GH04I055543 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.5 +200.3 200268 4.8 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF766 CLOCK ENSG00000272969 RN7SKP30 TMEM165 CEP135 AASDH SRP72 NMU SRD5A3
GH04I055635 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 9 +290.3 290292 1.2 HDAC1 ATF1 TAF9B RB1 NFRKB SIN3A ZBTB40 RAD21 ZNF335 RBM34 NMU SRP72 CEP135 SRD5A3 PDCL2
GH04I055321 Enhancer 0.7 ENCODE 12.3 -24.2 -24220 0.2 CTCF PYGO2 RAD21 CC2D1A SMC3 ZNF143 ZSCAN29 CREM ZNF654 DACH1 SRD5A3 LRRC34P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SRD5A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SRD5A3 gene promoter:

Genomic Locations for SRD5A3 Gene

Genomic Locations for SRD5A3 Gene
chr4:55,346,109-55,373,100
(GRCh38/hg38)
Size:
26,992 bases
Orientation:
Plus strand
chr4:56,212,276-56,239,267
(GRCh37/hg19)

Genomic View for SRD5A3 Gene

Genes around SRD5A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRD5A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRD5A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRD5A3 Gene

Proteins for SRD5A3 Gene

  • Protein details for SRD5A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8P0-PORED_HUMAN
    Recommended name:
    Polyprenol reductase
    Protein Accession:
    Q9H8P0
    Secondary Accessions:
    • Q4W5Q6

    Protein attributes for SRD5A3 Gene

    Size:
    318 amino acids
    Molecular mass:
    36521 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SRD5A3 Gene

Post-translational modifications for SRD5A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRD5A3 Gene

No data available for DME Specific Peptides for SRD5A3 Gene

Domains & Families for SRD5A3 Gene

Gene Families for SRD5A3 Gene

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

Protein Domains for SRD5A3 Gene

Suggested Antigen Peptide Sequences for SRD5A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8P0

UniProtKB/Swiss-Prot:

PORED_HUMAN :
  • Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily.
Family:
  • Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily.
genes like me logo Genes that share domains with SRD5A3: view

Function for SRD5A3 Gene

Molecular function for SRD5A3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Ditrans,polycis-dolichol + NADP(+) = ditrans,polycis-polyprenol + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH.
UniProtKB/Swiss-Prot Function:
Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).

Enzyme Numbers (IUBMB) for SRD5A3 Gene

Gene Ontology (GO) - Molecular Function for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor TAS --
GO:0047751 cholestenone 5-alpha-reductase activity IEA --
genes like me logo Genes that share ontologies with SRD5A3: view
genes like me logo Genes that share phenotypes with SRD5A3: view

Human Phenotype Ontology for SRD5A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SRD5A3 Gene

MGI Knock Outs for SRD5A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SRD5A3

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SRD5A3 Gene

Localization for SRD5A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRD5A3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 SRD5A3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 20637498
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SRD5A3: view

Pathways & Interactions for SRD5A3 Gene

genes like me logo Genes that share pathways with SRD5A3: view

UniProtKB/Swiss-Prot Q9H8P0-PORED_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for SRD5A3 Gene

Gene Ontology (GO) - Biological Process for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process IMP,IEA 20637498
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006702 androgen biosynthetic process TAS --
genes like me logo Genes that share ontologies with SRD5A3: view

No data available for SIGNOR curated interactions for SRD5A3 Gene

Drugs & Compounds for SRD5A3 Gene

(9) Drugs for SRD5A3 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Spironolactone Approved Pharma Antagonist, Target, antagonist 244
Dutasteride Approved, Investigational Pharma 5-alpha-reductase inhibitor 115
Finasteride Approved Pharma Inhibitor of Type II 5α-reductase 67
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 594
Auranofin Approved, Investigational Pharma Activation, Activator Thioredoxin reductase inhibitor; induces MPT 11

(4) Additional Compounds for SRD5A3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6

(2) Tocris Compounds for SRD5A3 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT 34031-32-8
PX 12 Thioredoxin-1 inhibitor 141400-58-0

(2) ApexBio Compounds for SRD5A3 Gene

Compound Action Cas Number
Dutasteride 5-alpha-reductase inhibitor 164656-23-9
Finasteride Inhibitor of Type II 5α-reductase 98319-26-7
genes like me logo Genes that share compounds with SRD5A3: view

Drug Products

Transcripts for SRD5A3 Gene

Unigene Clusters for SRD5A3 Gene

Steroid 5 alpha-reductase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - -
SP3: -
SP4: - - - - - -
SP5: - -
SP6: - - - -
SP7:

Relevant External Links for SRD5A3 Gene

GeneLoc Exon Structure for
SRD5A3
ECgene alternative splicing isoforms for
SRD5A3

Expression for SRD5A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRD5A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRD5A3 Gene

This gene is overexpressed in Ovary (38.1) and Breast (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SRD5A3 Gene



Protein tissue co-expression partners for SRD5A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SRD5A3 Gene:

SRD5A3

SOURCE GeneReport for Unigene cluster for SRD5A3 Gene:

Hs.39311

mRNA Expression by UniProt/SwissProt for SRD5A3 Gene:

Q9H8P0-PORED_HUMAN
Tissue specificity: Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs.

Evidence on tissue expression from TISSUES for SRD5A3 Gene

  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRD5A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
Limb:
  • arm
  • elbow
  • knee
  • lower limb
  • nail
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SRD5A3: view

No data available for mRNA differential expression in normal tissues for SRD5A3 Gene

Orthologs for SRD5A3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SRD5A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRD5A3 34 33
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRD5A3 33 34
  • 89.1 (n)
cow
(Bos Taurus)
Mammalia SRD5A3 33 34
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Srd5a3 33 16 34
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia Srd5a3 33
  • 79.92 (n)
oppossum
(Monodelphis domestica)
Mammalia SRD5A3 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRD5A3 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRD5A3 34 33
  • 66.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRD5A3 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a3 33
  • 61.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53983 33
zebrafish
(Danio rerio)
Actinopterygii srd5a3 33 34
  • 54.65 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10153 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007493 33
  • 45.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7840 33 34
  • 45.05 (n)
worm
(Caenorhabditis elegans)
Secernentea B0024.13 33 34
  • 43.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DFG10 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for SRD5A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRD5A3 Gene

ENSEMBL:
Gene Tree for SRD5A3 (if available)
TreeFam:
Gene Tree for SRD5A3 (if available)

Paralogs for SRD5A3 Gene

Pseudogenes.org Pseudogenes for SRD5A3 Gene

genes like me logo Genes that share paralogs with SRD5A3: view

No data available for Paralogs for SRD5A3 Gene

Variants for SRD5A3 Gene

Sequence variations from dbSNP and Humsavar for SRD5A3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1047343 uncertain-significance, Congenital disorder of glycosylation 55,371,950(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111238066 uncertain-significance, Congenital disorder of glycosylation 55,371,692(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111568566 likely-benign, Congenital disorder of glycosylation, not specified 55,346,297(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs115046277 uncertain-significance, Congenital disorder of glycosylation 55,371,420(+) T/C 3_prime_UTR_variant
rs116416011 uncertain-significance, Congenital disorder of glycosylation 55,370,195(+) T/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SRD5A3 Gene

Variant ID Type Subtype PubMed ID
nsv526344 CNV gain 19592680
nsv966270 CNV duplication 23825009

Variation tolerance for SRD5A3 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRD5A3 Gene

Human Gene Mutation Database (HGMD)
SRD5A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRD5A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRD5A3 Gene

Disorders for SRD5A3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SRD5A3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PORED_HUMAN
  • Congenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:20637498, ECO:0000269 PubMed:22240719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. {ECO:0000269 PubMed:20700148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SRD5A3

genes like me logo Genes that share disorders with SRD5A3: view

No data available for Genatlas for SRD5A3 Gene

Publications for SRD5A3 Gene

  1. Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. (PMID: 17986282) Uemura M … Nakagawa H (Cancer science 2008) 2 3 4 58
  2. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. (PMID: 20700148) Kahrizi K … Tzschach A (European journal of human genetics : EJHG 2011) 3 4 58
  3. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. (PMID: 20637498) Cantagrel V … Gleeson JG (Cell 2010) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. (PMID: 28253385) Taylor RL … UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project (JAMA ophthalmology 2017) 3 58

Products for SRD5A3 Gene

Sources for SRD5A3 Gene

Content
Loading form....