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Aliases for RDH11 Gene

Aliases for RDH11 Gene

  • Retinol Dehydrogenase 11 2 3 3
  • Androgen-Regulated Short-Chain Dehydrogenase/Reductase 1 2 3 4
  • Retinol Dehydrogenase 11 (All-Trans/9-Cis/11-Cis) 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 7C, Member 1 2 3
  • HCV Core-Binding Protein HCBP12 3 4
  • Retinal Reductase 1 3 4
  • ARSDR1 3 4
  • SDR7C1 3 4
  • PSDR1 3 4
  • Short Chain Dehydrogenase/Reductase Family 7C Member 1 4
  • Prostate Short-Chain Dehydrogenase Reductase 1 3
  • Prostate Short-Chain Dehydrogenase/Reductase 1 4
  • Retinol Dehydrogenase 11 (All-Trans And 9-Cis) 2
  • EC 1.1.1.300 4
  • HCBP12 3
  • RDJCSS 3
  • CGI82 3
  • RALR1 3
  • SCALD 3
  • RalR1 4
  • MDT1 3

External Ids for RDH11 Gene

Previous GeneCards Identifiers for RDH11 Gene

  • GC14M061937
  • GC14M066133
  • GC14M067213
  • GC14M068143
  • GC14M048313

Summaries for RDH11 Gene

Entrez Gene Summary for RDH11 Gene

  • The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]

GeneCards Summary for RDH11 Gene

RDH11 (Retinol Dehydrogenase 11) is a Protein Coding gene. Diseases associated with RDH11 include Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome and Tinea Favosa. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH12.

UniProtKB/Swiss-Prot for RDH11 Gene

  • Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.

Gene Wiki entry for RDH11 Gene

Additional gene information for RDH11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH11 Gene

Genomics for RDH11 Gene

GeneHancer (GH) Regulatory Elements for RDH11 Gene

Promoters and enhancers for RDH11 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
GH14J067692 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 663.4 +1.2 1184 3.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 RDH11 PIGH ARG2 RDH12 ENSG00000259502 PLEK2 ENSG00000258466
GH14J067690 Promoter 0.5 EPDnew 650.4 +5.5 5496 0.1 GC14P067688 ENSG00000258466 RDH11
GH14J067673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.1 +21.2 21222 2.5 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 ZNF207 VTI1B PIGH RDH11 RDH12 RN7SL369P ZFYVE26 ARG2 EIF2S1 ENSG00000258466 GC14M067658
GH14J067635 Enhancer 1 ENCODE 13.3 +59.5 59524 1.4 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 RXRA RDH11 ARG2 GC14M067653
GH14J067666 Enhancer 0.9 Ensembl ENCODE 12.8 +28.8 28786 1.8 CTCF TFAP4 ARID4B RAD21 YY1 ZNF316 ARID2 SMC3 ZNF143 IKZF2 ARG2 ENSG00000201529 RDH11 PIGH RDH12 RN7SL369P VTI1B GC14M067658 ENSG00000258466
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RDH11 gene promoter:
  • Arnt
  • AREB6
  • MyoD
  • c-Myb
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • STAT3

Genomic Locations for RDH11 Gene

Genomic Locations for RDH11 Gene
chr14:67,676,800-67,695,814
(GRCh38/hg38)
Size:
19,015 bases
Orientation:
Minus strand
chr14:68,143,517-68,162,531
(GRCh37/hg19)
Size:
19,015 bases
Orientation:
Minus strand

Genomic View for RDH11 Gene

Genes around RDH11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH11 Gene

Proteins for RDH11 Gene

  • Protein details for RDH11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC12-RDH11_HUMAN
    Recommended name:
    Retinol dehydrogenase 11
    Protein Accession:
    Q8TC12
    Secondary Accessions:
    • A6NDK3
    • A8K062
    • B2RB26
    • B4DDW0
    • Q0QD40
    • Q6IAH5
    • Q9NRW0
    • Q9Y391

    Protein attributes for RDH11 Gene

    Size:
    318 amino acids
    Molecular mass:
    35386 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RDH11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RDH11 Gene

Post-translational modifications for RDH11 Gene

No data available for DME Specific Peptides for RDH11 Gene

Domains & Families for RDH11 Gene

Gene Families for RDH11 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8TC12

UniProtKB/Swiss-Prot:

RDH11_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH11: view

Function for RDH11 Gene

Molecular function for RDH11 Gene

UniProtKB/Swiss-Prot Function:
Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.
UniProtKB/Swiss-Prot CatalyticActivity:
All-trans-retinol + NADP(+) = all-trans-retinal + NADPH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.23 uM for NADPH {ECO:0000269 PubMed:12036956}; KM=0.8 uM for NADP {ECO:0000269 PubMed:12036956}; KM=0.5 uM for all-trans-retinal {ECO:0000269 PubMed:12036956}; KM=0.62 uM for 13-cis-retinal {ECO:0000269 PubMed:12036956}; KM=0.19 uM for 9-cis-retinal {ECO:0000269 PubMed:12036956}; KM=1.3 uM for all-trans-retinol {ECO:0000269 PubMed:12036956}; Vmax=18 nmol/min/mg enzyme with all-trans-retinal as substrate {ECO:0000269 PubMed:12036956}; Vmax=7 nmol/min/mg enzyme with 13-cis-retinal as substrate {ECO:0000269 PubMed:12036956}; Vmax=1.6 nmol/min/mg enzyme with 9-cis-retinal as substrate {ECO:0000269 PubMed:12036956}; Vmax=0.95 nmol/min/mg enzyme with all-trans-retinol as substrate {ECO:0000269 PubMed:12036956}; Note=Vmax is measured per mg microsomal protein.;
UniProtKB/Swiss-Prot Induction:
By androgens in prostate cancer cells.

Enzyme Numbers (IUBMB) for RDH11 Gene

Gene Ontology (GO) - Molecular Function for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA,IBA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor TAS --
GO:0052650 NADP-retinol dehydrogenase activity TAS,IDA --
genes like me logo Genes that share ontologies with RDH11: view
genes like me logo Genes that share phenotypes with RDH11: view

Human Phenotype Ontology for RDH11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDH11 Gene

MGI Knock Outs for RDH11:

Animal Model Products

CRISPR Products

miRNA for RDH11 Gene

miRTarBase miRNAs that target RDH11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH11

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RDH11 Gene

Localization for RDH11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH11 Gene

Endoplasmic reticulum membrane; Single-pass type II 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 RDH11 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005622 intracellular ISS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RDH11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RDH11 Gene

Pathways & Interactions for RDH11 Gene

genes like me logo Genes that share pathways with RDH11: view

Pathways by source for RDH11 Gene

1 GeneGo (Thomson Reuters) pathway for RDH11 Gene
1 Qiagen pathway for RDH11 Gene

Gene Ontology (GO) - Biological Process for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0016062 adaptation of rhodopsin mediated signaling IEA --
GO:0042572 retinol metabolic process ISS --
GO:0042574 retinal metabolic process IDA 12807874
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RDH11: view

No data available for SIGNOR curated interactions for RDH11 Gene

Drugs & Compounds for RDH11 Gene

(1) Drugs for RDH11 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 529

(3) Additional Compounds for RDH11 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
116-31-4
genes like me logo Genes that share compounds with RDH11: view

Transcripts for RDH11 Gene

mRNA/cDNA for RDH11 Gene

Unigene Clusters for RDH11 Gene

Retinol dehydrogenase 11 (all-trans/9-cis/11-cis):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH11

Alternative Splicing Database (ASD) splice patterns (SP) for RDH11 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a ·
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - -
SP11:
SP12: - - - - - - - - - - - - - - - - - -
SP13: -

ExUns: 9b · 9c · 9d · 9e · 9f · 9g
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RDH11 Gene

GeneLoc Exon Structure for
RDH11
ECgene alternative splicing isoforms for
RDH11

Expression for RDH11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RDH11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RDH11 Gene

This gene is overexpressed in Nasal epithelium (9.3), Bone (9.1), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RDH11 Gene



Protein tissue co-expression partners for RDH11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RDH11 Gene:

RDH11

SOURCE GeneReport for Unigene cluster for RDH11 Gene:

Hs.719925

mRNA Expression by UniProt/SwissProt for RDH11 Gene:

Q8TC12-RDH11_HUMAN
Tissue specificity: Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney, adrenal gland and fetal liver. Not detected in prostatic fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes.

Evidence on tissue expression from TISSUES for RDH11 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Muscle(4.5)
  • Eye(4.4)
  • Skin(4.1)
  • Kidney(4)
  • Lung(3.7)
  • Intestine(3.1)
  • Heart(3)
  • Blood(2.8)
  • Spleen(2.8)
  • Pancreas(2.3)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with RDH11: view

No data available for mRNA differential expression in normal tissues for RDH11 Gene

Orthologs for RDH11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RDH11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RDH11 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RDH11 33
  • 89.15 (n)
cow
(Bos Taurus)
Mammalia RDH11 33
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Rdh11 33
  • 83.28 (n)
mouse
(Mus musculus)
Mammalia Rdh11 16 34 33
  • 83.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rdh12 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2065 34 33
  • 56.36 (n)
ManyToMany
CG2070 34
  • 48 (a)
ManyToMany
CG2064 34
  • 46 (a)
ManyToMany
CG30495 34
  • 44 (a)
ManyToMany
CG30491 34
  • 44 (a)
ManyToMany
CG3842 34
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-22 33
  • 44.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G02540 33
  • 52.29 (n)
rice
(Oryza sativa)
Liliopsida Os01g0151700 33
  • 50.6 (n)
Species where no ortholog for RDH11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RDH11 Gene

ENSEMBL:
Gene Tree for RDH11 (if available)
TreeFam:
Gene Tree for RDH11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RDH11: view image

Paralogs for RDH11 Gene

Paralogs for RDH11 Gene

(8) SIMAP similar genes for RDH11 Gene using alignment to 7 proteins:

  • RDH11_HUMAN
  • B3KQ19_HUMAN
  • G3V234_HUMAN
  • G3V2G6_HUMAN
  • G3V3K0_HUMAN
  • G3V510_HUMAN
  • H0YJ46_HUMAN

Pseudogenes.org Pseudogenes for RDH11 Gene

genes like me logo Genes that share paralogs with RDH11: view

Variants for RDH11 Gene

Sequence variations from dbSNP and Humsavar for RDH11 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs606231423 pathogenic, Retinal dystrophy, juvenile cataracts, and short stature syndrome 67,692,588(-) G/A coding_sequence_variant, stop_gained
rs606231424 pathogenic, Retinal dystrophy, juvenile cataracts, and short stature syndrome 67,692,465(-) G/A coding_sequence_variant, stop_gained
rs1000260011 -- 67,680,546(-) C/G intron_variant
rs1000466972 -- 67,688,295(-) C/T intron_variant
rs1000617008 -- 67,679,903(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RDH11 Gene

Variant ID Type Subtype PubMed ID
nsv521832 CNV loss 19592680

Variation tolerance for RDH11 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH11 Gene

Human Gene Mutation Database (HGMD)
RDH11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH11 Gene

Disorders for RDH11 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RDH11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal dystrophy, juvenile cataracts, and short stature syndrome
  • rdjcss
tinea favosa
  • favus
ecthyma
epiglottitis
  • acute epiglottitis
actinomycosis
  • actinomycetoma
- elite association - COSMIC cancer census association via MalaCards
Search RDH11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RDH11_HUMAN
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) [MIM:616108]: A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. {ECO:0000269 PubMed:24916380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RDH11

genes like me logo Genes that share disorders with RDH11: view

No data available for Genatlas for RDH11 Gene

Publications for RDH11 Gene

  1. Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1). (PMID: 12036956) Kedishvili NY … Nelson PS (The Journal of biological chemistry 2002) 3 4 22 58
  2. Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium. (PMID: 11245473) Lin B … Nelson PS (Cancer research 2001) 3 4 22 58
  3. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. (PMID: 24916380) Xie YA … Allikmets R (Human molecular genetics 2014) 3 4 58
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  5. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 58

Products for RDH11 Gene

Sources for RDH11 Gene

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