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 be... See more...

Aliases for NSDHL Gene

Aliases for NSDHL Gene

  • NAD(P) Dependent Steroid Dehydrogenase-Like 2 3 5
  • Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating 3 4
  • Short Chain Dehydrogenase/Reductase Family 31E, Member 1 2 3
  • Protein H105e3 3 4
  • EC 1.1.1.170 4 52
  • H105E3 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • SDR31E1 3
  • XAP104 3

External Ids for NSDHL Gene

Previous GeneCards Identifiers for NSDHL Gene

  • GC0XP150618
  • GC0XP151670
  • GC0XP151750
  • GC0XP151999
  • GC0XP140816

Summaries for NSDHL Gene

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 Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects and Ck Syndrome. Among its related pathways are Terpenoid backbone biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E1.

UniProtKB/Swiss-Prot Summary for NSDHL Gene

  • Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.

Gene Wiki entry for NSDHL Gene

Additional gene information for NSDHL Gene

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

Genomics for NSDHL Gene

GeneHancer (GH) Regulatory Elements for NSDHL Gene

Promoters and enhancers for NSDHL 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
GH0XJ152829 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.1 1134 5 NRF1 POLR2G SP1 NCOR1 PHF8 ZFX POLR2A FOS ZNF423 ZBTB26 CETN2 NSDHL ZNF185 PNMA6A HSALNG0140722
GH0XJ152812 Promoter 0.3 EPDnew 500.4 -18.2 -18166 0.1 NSDHL lnc-NSDHL-1 HSALNG0140720
GH0XJ152872 Enhancer 0.6 Ensembl 0.3 +41.7 41734 1.8 KLF9 TRIM24 POLR2G TARDBP KLF8 ZFHX2 EGR1 NR2F6 KLF1 AGO2 HSALNG0140722 ZNF185 NSDHL
GH0XJ152840 Enhancer 0.2 Ensembl 0.4 +9.7 9734 0.2 NSDHL HSALNG0140722
GH0XJ152847 Enhancer 0.2 Ensembl 0.4 +17.0 17034 0.4 ZNF185 NSDHL HSALNG0140722
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSDHL on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the NSDHL gene promoter:
  • AML1a
  • CBF(2)
  • CUTL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HOXA9
  • NF-Y
  • STAT3

Genomic Locations for NSDHL Gene

Genomic Locations for NSDHL Gene
chrX:152,830,967-152,869,729
(GRCh38/hg38)
Size:
38,763 bases
Orientation:
Plus strand
chrX:151,999,511-152,038,273
(GRCh37/hg19)
Size:
38,763 bases
Orientation:
Plus strand

Genomic View for NSDHL Gene

Genes around NSDHL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NSDHL Gene

Proteins for NSDHL Gene

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

    Protein Symbol:
    Q15738-NSDHL_HUMAN
    Recommended name:
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Protein Accession:
    Q15738
    Secondary Accessions:
    • D3DWT6
    • O00344

    Protein attributes for NSDHL Gene

    Size:
    373 amino acids
    Molecular mass:
    41900 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NSDHL Gene

Selected DME Specific Peptides for NSDHL Gene

Q15738:
  • QDLYPALKGV
  • LGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPY

Post-translational modifications for NSDHL Gene

  • Ubiquitination at Lys96 and Lys191
  • Modification sites at PhosphoSitePlus

Other Protein References for NSDHL Gene

Domains & Families for NSDHL Gene

Gene Families for NSDHL Gene

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

Protein Domains for NSDHL Gene

Blocks:
  • 3-beta hydroxysteroid dehydrogenase/isomerase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSDHL Gene

GenScript: Design optimal peptide antigens:
  • Protein H105e3 (NSDHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15738

UniProtKB/Swiss-Prot:

NSDHL_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with NSDHL: view

Function for NSDHL Gene

Molecular function for NSDHL Gene

UniProtKB/Swiss-Prot Function:
Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH; Xref=Rhea:RHEA:34771, ChEBI:CHEBI:16526, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:136966; EC=1.1.1.170;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH; Xref=Rhea:RHEA:34775, ChEBI:CHEBI:16526, ChEBI:CHEBI:47788, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:136966; EC=1.1.1.170;.

Enzyme Numbers (IUBMB) for NSDHL Gene

Gene Ontology (GO) - Molecular Function for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000252 C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA,TAS --
GO:0016491 oxidoreductase activity IBA 21873635
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
GO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA --
genes like me logo Genes that share ontologies with NSDHL: view
genes like me logo Genes that share phenotypes with NSDHL: view

Human Phenotype Ontology for NSDHL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NSDHL Gene

miRTarBase miRNAs that target NSDHL

Inhibitory RNA Products

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

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for NSDHL Gene

Localization for NSDHL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSDHL Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet. Note=Trafficking through the Golgi is necessary for ER membrane localization.

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 NSDHL gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Lipid droplets (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IEA,IDA 14741744
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NSDHL: view

Pathways & Interactions for NSDHL Gene

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

UniProtKB/Swiss-Prot Q15738-NSDHL_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.

Gene Ontology (GO) - Biological Process for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with NSDHL: view

No data available for SIGNOR curated interactions for NSDHL Gene

Drugs & Compounds for NSDHL Gene

(8) Drugs for NSDHL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(10) Additional Compounds for NSDHL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
3-Keto-4-methylzymosterol
  • (5a)-4-Methylcholesta-8,24-dien-3-one
  • (5alpha)-4-Methylcholesta-8,24-dien-3-one
  • 3-dehydro-4-Methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
  • 4-Methyl-5alpha-cholesta-8,24-dien-3-one
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4α-carboxy-4β-methyl-5α-cholesta-8,24-dien-3β-ol
4a-Methylzymosterol-4-carboxylic acid
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4alpha-Methylzymosterol-4-carboxylic acid
5a-Cholesta-8,24-dien-3-one
  • 5alpha-Cholesta-8,24-dien-3-one
genes like me logo Genes that share compounds with NSDHL: view

Transcripts for NSDHL Gene

mRNA/cDNA for NSDHL Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for NSDHL Gene

GeneLoc Exon Structure for
NSDHL

Expression for NSDHL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSDHL Gene

This gene is overexpressed in Nasal epithelium (24.2), Bone (9.3), Fetal testis (9.1), and Testis (7.0).

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



Protein tissue co-expression partners for NSDHL Gene

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

SOURCE GeneReport for Unigene cluster for NSDHL Gene:

Hs.57698

mRNA Expression by UniProt/SwissProt for NSDHL Gene:

Q15738-NSDHL_HUMAN
Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta.

Evidence on tissue expression from TISSUES for NSDHL Gene

  • Heart(4.3)
  • Liver(4.3)
  • Eye(4.2)
  • Nervous system(3.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NSDHL: view

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

Orthologs for NSDHL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSDHL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSDHL 31 30
  • 92.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSDHL 31 30
  • 89.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSDHL 31 30
  • 88.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nsdhl 17 31 30
  • 85.23 (n)
rat
(Rattus norvegicus)
Mammalia Nsdhl 30
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia NSDHL 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSDHL 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSDHL 31 30
  • 74.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSDHL 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsdhl 30
  • 70.95 (n)
zebrafish
(Danio rerio)
Actinopterygii nsdhl 31 30
  • 65.27 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9643 30
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR001W 30
  • 49.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 33 31 30
  • 48.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18513g 30
  • 47.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons 3BETAHSD/D2 30
  • 47.73 (n)
rice
(Oryza sativa)
Liliopsida Os03g0405000 30
  • 49.75 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02693 30
  • 47.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3F6.02c 30
  • 46.71 (n)
Species where no ortholog for NSDHL was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSDHL Gene

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

Paralogs for NSDHL Gene

Paralogs for NSDHL Gene

(2) SIMAP similar genes for NSDHL Gene using alignment to 2 proteins:

  • NSDHL_HUMAN
  • C9JDR0_HUMAN
genes like me logo Genes that share paralogs with NSDHL: view

Variants for NSDHL Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
698117 Benign: not provided 152,858,853(+) T/C SYNONYMOUS_VARIANT
703493 Benign: not provided 152,865,953(+) C/T SYNONYMOUS_VARIANT
704401 Likely Benign: not provided 152,868,835(+) C/T MISSENSE_VARIANT
706009 Likely Benign: not provided 152,868,887(+) G/T MISSENSE_VARIANT
707162 Benign: not provided 152,858,808(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NSDHL Gene

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

Variant ID Type Subtype PubMed ID
esv25868 CNV gain 19812545
esv2758901 CNV gain 17122850
esv3305102 CNV mobile element insertion 20981092
esv3308731 CNV mobile element insertion 20981092
esv3423214 CNV insertion 20981092
nsv470373 CNV gain 18288195
nsv7158 CNV insertion 18451855

Variation tolerance for NSDHL Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSDHL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NSDHL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
  • child syndrome
ck syndrome
  • mental retardation, x-linked, with thin body habitus and cortical malformation
nsdhl-related disorders
chondrodysplasia punctata 2, x-linked dominant
  • chh
amelia
- elite association - COSMIC cancer census association via MalaCards
Search NSDHL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSDHL_HUMAN
  • 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. {ECO:0000269 PubMed:10710235, ECO:0000269 PubMed:11907515}. 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. {ECO:0000269 PubMed:21129721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NSDHL

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

No data available for Genatlas for NSDHL Gene

Publications for NSDHL Gene

  1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (PMID: 10710235) König A … Grzeschik KH (American journal of medical genetics 2000) 2 3 4 23 54
  2. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. (PMID: 12837764) Ohashi M … Yoshimori T (The Journal of biological chemistry 2003) 2 3 23 54
  3. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (PMID: 21129721) McLarren KW … Boerkoel CF (American journal of human genetics 2010) 3 4 54
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 54
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 41 54

Products for NSDHL Gene

Sources for NSDHL Gene