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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NSDHL Gene

protein-coding   GIFtS: 67
GCID: GC0XP151999

NAD(P) Dependent Steroid Dehydrogenase-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NAD(P) Dependent Steroid Dehydrogenase-Like1 2     Short Chain Dehydrogenase/Reductase Family 31E1
Protein H105e32 3     SDR31E12
H105E32 3     XAP1042
EC 1.1.1.1703 8     Short Chain Dehydrogenase/Reductase Family 31E, Member 12
Member 11     Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating2

External Ids:    HGNC: 133981   Entrez Gene: 508142   Ensembl: ENSG000001473837   OMIM: 3002755   UniProtKB: Q157383   

Export aliases for NSDHL gene to outside databases

Previous GC identifers: GC0XP150618 GC0XP151670 GC0XP151750 GC0XP140816


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NSDHL Gene:
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol
biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of
lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced
transcript variants with differing 5' UTR have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NSDHL Gene: 
NSDHL (NAD(P) dependent steroid dehydrogenase-like) is a protein-coding gene. Diseases associated with NSDHL include child syndrome, and ck syndrome, and among its related super-pathways are Cholesterol biosynthesis and Metabolic pathways. GO annotations related to this gene include sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity and nucleotide binding. An important paralog of this gene is HSD3B2.

Gene Wiki entry for NSDHL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSDHL gene promoter:
         HOXA9   AML1a   GCNF   GCNF-1   STAT3   CUTL1   GCNF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSDHL promoter sequence
   Search SABiosciences Chromatin IP Primers for NSDHL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSDHL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

NSDHL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSDHL gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP151999:  view genomic region     (about GC identifiers)

Start:
151,999,511 bp from pter      End:
152,038,273 bp from pter
Size:
38,763 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738 (See protein sequence)
Recommended Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating  
Size: 373 amino acids; 41900 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: D3DWT6 O00344

Explore the universe of human proteins at neXtProt for NSDHL: NX_Q15738

Explore proteomics data for NSDHL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15738

  • 2 DME Specific Peptides for NSDHL (Q15738)
     QDLYPALKGV  LGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPY 

    NSDHL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NSDHL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123237.1  NP_057006.1  

    ENSEMBL proteins: 
     ENSP00000359297   ENSP00000396266   ENSP00000391854  
    Reactome Protein details: Q15738
    Human Recombinant Protein Products for NSDHL: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005811lipid particle IDA14741744
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    NSDHL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     IPR002225 3Beta_OHSteriod_DH/Estase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q15738

    ProtoNet protein and cluster: Q15738

    1 Blocks protein domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Similarity: Belongs to the 3-beta-HSD family


    NSDHL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSDHL_HUMAN, Q15738
    Catalytic activity: A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H

         Enzyme Number (IUBMB): EC 1.1.1.1701 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity IEA--
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0047012sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA--
         
    NSDHL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NSDHL:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Nsdhl):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  nervous system  pigmentation 
     skeleton  vision/eye 

    NSDHL for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NSDHL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    Cholesterol biosynthesis0.62
    Steroid biosynthesis0.48
    cholesterol biosynthesis III (via desmosterol)0.59
    zymosterol biosynthesis0.46
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for NSDHL (see all 6)
        Cholesterol biosynthesis
    zymosterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)


    3        Reactome Pathways for NSDHL
        Metabolism
    Cholesterol biosynthesis
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for NSDHL):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6


    NSDHL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSDHL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/44 Interacting proteins for NSDHL (Q157383 ENSP000003592974) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000258947Q135093I2D: score=2 
    FDFT1P372683, ENSP000002205844I2D: score=2 STRING: ENSP00000220584
    LSSP484493, ENSP000003487624I2D: score=2 STRING: ENSP00000348762
    SQLEQ145343, ENSP000002658964I2D: score=2 STRING: ENSP00000265896
    TUBB3Q135093I2D: score=2 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development IEA--
    GO:0006694steroid biosynthetic process ----
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0007224smoothened signaling pathway IEA--
    GO:0008203cholesterol metabolic process ----

    NSDHL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NSDHL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NSDHL

    10/13 HMDB Compounds for NSDHL (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Keto-4-methylzymosterol4-methyl-5a-cholesta-8,24-dien-3-one (see all 6)----
    3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate (see all 5)----
    4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol4a-carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol (see all 2)----
    4a-Methylzymosterol-4-carboxylic acid4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)----
    5a-Cholesta-8,24-dien-3-one5alpha-cholesta-8,24-dien-3-one ----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Lathosterol(3beta)-Cholest-7-en-3-ol (see all 26)80-99-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    1 DrugBank Compound for NSDHL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 15805545

    4 Novoseek inferred chemical compound relationships for NSDHL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    emopamil 91.3 2 17498944 (1), 10710235 (1)
    3beta-hydroxysteroid 70.6 3 10710235 (2), 16230564 (1)
    cholesterol 53.4 10 12837764 (2), 10710235 (2), 12966526 (1), 14726863 (1) (see all 8)
    lipid 0 5 12837764 (5)

    Search CenterWatch for drugs/clinical trials and news about NSDHL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NSDHL gene (2 alternative transcripts): 
    NM_001129765.1  NM_015922.2  

    Unigene Cluster for NSDHL:

    NAD(P) dependent steroid dehydrogenase-like
    Hs.57698  [show with all ESTs]
    Unigene Representative Sequence: AK026549
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370274(uc004fgs.1) ENST00000432467 ENST00000440023(uc004fgt.1)

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    Additional mRNA sequence: 

    AK026549.1 BC000245.1 BC007816.2 U47105.2 

    9 DOTS entries:

    DT.314300  DT.100784885  DT.100784882  DT.100784884  DT.100784889  DT.100784881  DT.121288699  DT.92036644 
    DT.95093580 

    24/187 AceView cDNA sequences (see all 187):

    BM550912 AI096817 CR619158 AI433425 BM509864 CB241973 BG291071 BQ028306 
    BC007816 BE408485 CR611612 AU104853 BM695535 BF793480 BM713508 AJ713820 
    AI360326 BF793173 BF353865 BQ445887 AA449670 CR593268 BC000245 CA843701 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NSDHL expression in normal human tissues (normalized intensities)      NSDHL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTGGATT
    NSDHL Expression
    About this image


    NSDHL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

    See NSDHL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSDHL

    SOURCE GeneReport for Unigene cluster: Hs.57698

    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
    Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta

        SABiosciences Expression via Pathway-Focused PCR Array including NSDHL: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSDHL gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsdhl1 , 5 NAD(P) dependent steroid dehydrogenase-like1, 5 85.23(n)1
    85.87(a)1
      X (37.29 cM)5
    181941  NM_010941.31  NP_035071.31 
     729185575 
    chicken
    (Gallus gallus)
    Aves NSDHL1 NAD(P) dependent steroid dehydrogenase-like 74.31(n)
    75.88(a)
      422302  XM_420279.2  XP_420279.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSDHL6
    Uncharacterized protein
    75(a)
    1 ↔ 1
    GL343202.1(1706299-1712383)
    zebrafish
    (Danio rerio)
    Actinopterygii nsdhl1 NAD(P) dependent steroid dehydrogenase-like 65.47(n)
    67.66(a)
      550369  NM_001017674.1  NP_001017674.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG26(YGL001C)4
    ERG261
    C-3 sterol dehydrogenase, catalyzes the second of three more4
    Erg26p1
    48.53(n)1
    40.88(a)1
      7(496502-495453)4
    8528831, 4  NP_011514.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 3BETAHSD/D21 3beta-hydroxysteroid-dehydrogenase/decarboxylase isoform more 47.82(n)
    43.16(a)
      817166  NM_128183.3  NP_180194.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g04050001 hypothetical protein 50(n)
    43.03(a)
      4333071  NM_001056862.1  NP_001050327.1 


    ENSEMBL Gene Tree for NSDHL (if available)
    TreeFam Gene Tree for NSDHL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSDHL gene
    HSD3B22  SDR42E12  SDR42E22  HSD3B72  HSD3B12  
    2 SIMAP similar genes for NSDHL using alignment to 2 protein entries:     NSDHL_HUMAN (see all proteins):
    SDR42E1    SDR42E2

    NSDHL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/653 SNPs in NSDHL are shown (see all 653)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102084
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0102082 G S mis40--------
    VAR_0652894
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0652892 A P mis40--------
    VAR_0102074
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)4--see VAR_0102072 A V mis40--------
    rs1048949031,2
    Cpathogenic1151885602(+) GCAGCC/TGACAG 4 R * stg10--------
    rs1048949091,2
    Cpathogenic1151894003(+) CTGTGC/TGTCAC 4 A V mis10--------
    rs1048949051,2
    Cpathogenic1151897819(+) TCTTTG/TAGGGC 4 E * stg10--------
    rs1048949041,2
    Cpathogenic1151901006(+) TCCAGC/GCAGTT 4 P A mis10--------
    rs1048949011,2
    Cpathogenic1151901075(+) TTTTCA/GGCCCA 4 S G mis10--------
    rs1048949021,2
    Cpathogenic1151901090(+) ACCCGC/TAGTTG 4 Q * stg10--------
    rs1219098331,2
    Cpathogenic1151902767(+) GGGAA-/GAACTTGG 2 N cds10--------

    HapMap Linkage Disequilibrium report for NSDHL (151999511 - 152038273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NSDHL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv273004CNV Insertion20981092
    esv269380CNV Insertion20981092
    nsv7158CNV Insertion18451855
    nsv470373CNV Gain18288195
    esv25868CNV Gain19812545
    dgv2493e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): NSDHL

    Locus Specific Mutation Databases (LSDB): NSDHL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NSDHL
    DNA2.0 Custom Variant and Variant Library Synthesis for NSDHL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300275   
    OMIM disorders: 308050  300831  
    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
  • Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An
    X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results
    in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with
    striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body.
    Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment,
    seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for NSDHL:    About MalaCards
    child syndrome    ck syndrome    nsdhl-related disorders    verruciform xanthoma of skin
    hypertrichosis    epidermal nevus    smith-lemli-opitz syndrome    antley-bixler syndrome
    congenital ichthyosiform erythroderma    scoliosis    endocarditis    microcephaly
    was-related disorders    tuberculosis    colorectal cancer    hepatitis
    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for NSDHL:
    Verruciform xanthoma of skin     Congenital ichthyosiform erythroderma     Smith-Lemli-Opitz syndrome

    NSDHL for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for NSDHL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    child syndrome 97.3 13 12966526 (3), 10710235 (3), 16088165 (2), 15639195 (1) (see all 7)
    cdpx2 87.3 1 10710235 (1)
    nevi 77.3 3 12966526 (1), 15805545 (1), 10710235 (1)
    xanthoma 68.6 1 16230564 (1)

    Genetic Association Database (GAD): NSDHL
    Human Genome Epidemiology (HuGE) Navigator: NSDHL (1 document)

    Export disorders for NSDHL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NSDHL gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with NSDHL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (PubMed id 10710235)1, 2, 3, 9 Konig A.... Grzeschik K.H. (2000)
    2. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. (PubMed id 12837764)1, 3, 9 Ohashi M....Yoshimori T. (2003)
    3. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. (PubMed id 15805545)1, 7, 9 Cunningham D....Herman G.E. (2005)
    4. Hypomorphic temperature-sensitive alleles of NSDHL ca use CK syndrome. (PubMed id 21129721)1, 2 McLarren K.W....Boerkoel C.F. (2010)
    5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    6. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (PubMed id 11907515)1, 2 Konig A....Grzeschik K.H. (2002)
    9. Comparative genome sequence analysis of the Bpa/Str region in mouse and man. (PubMed id 10854409)1, 2 Mallon A.-M....Brown S.D.M. (2000)
    10. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. (PubMed id 8828036)1, 2 Levin M.L.... Herman G.E. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 50814 HGNC: 13398 AceView: NSDHL Ensembl:ENSG00000147383 euGenes: HUgn50814
    ECgene: NSDHL Kegg: 50814 H-InvDB: NSDHL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NSDHL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NSDHL gene:
    Search GeneIP for patents involving NSDHL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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