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

NSDHL Gene

protein-coding   GIFtS: 63
GCID: GC0XP151999

NAD(P) dependent steroid dehydrogenase-like
 Explore 17 diseases affiliated with
NSDHL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NSDHL    

Aliases
for NSDHL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NAD(P) Dependent Steroid Dehydrogenase-Like1 2     EC 1.1.1.1703 8
SDR31E11 2     H105e31
XAP1041 2     Short Chain Dehydrogenase/Reductase Family 31E, Member 12
Protein H105e32 3     Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating2
H105E32 3     

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


Summaries
for NSDHL gene

(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:
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)

Gene Wiki entry for NSDHL


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  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 plasmid: NSDHL 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

Proteins
for NSDHL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15738

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

    NSDHL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000359297   ENSP00000396266   ENSP00000391854  
    Reactome Protein details: Q15738
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    Uscn Proteins for NSDHL

    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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    Protein Domains /
    Families
    for NSDHL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NSDHL for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

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


    Function
    for NSDHL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity IEA--
    GO:0047012sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA--


    NSDHL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NSDHL:
     Increased G1 DNA content 

    Animal Models:
         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


    Pathways & Interactions
    for NSDHL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1cholesterol biosynthesis III (via desmosterol)
    		cholesterol biosynthesis III (via desmosterol)1.00
    		Steroid biosynthesis0.60
    		cholesterol biosynthesis I1.00
    		zymosterol biosynthesis0.46
    		cholesterol biosynthesis II (via 24,25-dihydrolanosterol)1.00
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Cholesterol biosynthesis
    		Cholesterol biosynthesis1.00
    		Cholesterol Biosynthesis0.68
    		superpathway of cholesterol biosynthesis0.81

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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



    Drugs & Compounds
    for NSDHL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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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 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 

    Transcripts
    for NSDHL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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 cDNA 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):

    AK026549 U47105 AA449670 BM695535 BC000245 BF793480 CA843701 BI908710 
    CR609334 BM713508 CR593268 CR626623 BQ052273 CR619158 BF793173 BU739538 
    BQ028306 CR625562 AU104853 BG291071 BF353865 BQ445887 AW089018 AI096817 

    GeneLoc Exon Structure


    Expression
    for NSDHL gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAACTGGATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NSDHL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TrophoblastMural TrophectodermMural Trophectoderm CellsExtraembryonic Tissues
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)

    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: 
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    In Situ
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    Orthologs
    for NSDHL gene

    (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 last universal common ancestor (LUCA).

    Orthologs for NSDHL gene from 9/26 species (see all 26)    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343202.1(1706927-1710990)
    zebrafish
    (Danio rerio)    		 Actinopterygii nsdhl1 NAD(P) dependent steroid dehydrogenase-like 65.47(n)
    67.66(a)    		   550369  NM_001017674.1  NP_001017674.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea hsd-36
    hsd-26
    (see all 3)    		 --
    HydroxySteroid Dehydrogenase homolog family member...
    (see all 3)    		 22(a)
    20(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(5009269-5011191)
    X(5005238-5006993)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ybjS6
    		 predicted NAD(P)H-binding oxidoreductase with NAD(...
    		 23(a)
    		 1 → many
    		 Chromosome(904963-905976)


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

    Paralogs
    for NSDHL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSDHL gene
    SDR42E12  HSD3B22  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



    Genomic Variants
    for NSDHL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/467 NCBI SNPs in NSDHL are shown (see all 467)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048949031,2
    		Cpathogenic152018962(+) GCAGCC/TGACAG 4 R * stg10--------
    rs1048949091,2
    		Cpathogenic152027360(+) CTGTGC/TGTCAC 4 A V mis10--------
    rs1048949051,2
    		Cpathogenic152031176(+) TCTTTG/TAGGGC 4 E * stg10--------
    rs1048949041,2
    		Cpathogenic152034363(+) TCCAGC/GCAGTT 4 P A mis10--------
    rs1048949021,2
    		Cpathogenic152034447(+) ACCCGC/TAGTTG 4 Q * stg10--------
    rs1219098331,2
    		Cpathogenic152036124(+) GGGAA-/GAACTTGG 2 N cds10--------
    rs1219098341,2
    		Cpathogenic152037636(+) GCTTT-/TCGCCA 4 FR FSP fra10--------
    rs1219098321,2
    		Cuntested152014911(+) TCGCAC/TGGACT 4 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1872567261,2
    		--152001417(+) GTCTTA/CAGGCA 2 -- int10--------
    rs1920090041,2
    		--152001524(+) ATCAGA/CTCCTC 2 -- int10--------

    HapMap Linkage Disequilibrium report for NSDHL (151999511 - 152038273 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for NSDHL
         4 CNVs: 97093 83854 3273 74080
    Human Gene Mutation Database (HGMD): NSDHL

    Locus Specific Mutation Databases (LSDB): NSDHL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NSDHL
    DNA2.0 Custom Variant and Variant Library Synthesis for NSDHL

    Disorders / Diseases
    for NSDHL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NSDHL for disorders           About GeneDecksing

    OMIM gene information: 300275   
    OMIM disorders: 308050  300831  
    UniProtKB/Swiss-Prot: NSDHL_HUMAN, Q15738
  • Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    • (CHILD) [MIM:308050]. CHILD is 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
  • Defects in NSDHL are the cause of CK syndrome (CKS) [MIM:300831]. CKS is a disorder characterized by mild to
    • severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and
    thin body habitus

    17 diseases for NSDHL:    About MalaCards
    child syndrome    smith-lemli-opitz syndrome    antley-bixler syndrome    congenital ichthyosiform erythroderma
    cholesterol    epidermal nevus    giant cell hepatitis    nevus
    hypertrichosis    scoliosis    endocarditis    microcephaly
    colorectal cancer    hepatitis    tuberculosis    neuronitis
    mycobacterium tuberculosis

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NSDHL (1 document)

    Export disorders for NSDHL gene to outside databases

    Publications
    for NSDHL gene

    (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 46):
    (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. 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)
    7. 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)
    8. 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)
    9. 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)
    10. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma. (PubMed id 16230564)1, 9 Mehra S....Somach S. (2005)

    External Searches for NSDHL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing NSDHL gene

    (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

    Other Databases showing NSDHL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NSDHL gene

    (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

    Intellectual Property
    for NSDHL gene

    (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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