This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] See more...

Aliases for SC5D Gene

Aliases for SC5D Gene

  • Sterol-C5-Desaturase 2 3 4 5
  • Lathosterol Oxidase 2 3 4
  • Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S. Cerevisiae)-Like 2 3
  • Delta(7)-Sterol C5(6)-Desaturase 3 4
  • Delta(7)-Sterol 5(6)-Desaturase 2 3
  • Delta(7)-Sterol 5-Desaturase 3 4
  • Lathosterol 5-Desaturase 3 4
  • C-5 Sterol Desaturase 3 4
  • SC5DL 3 4
  • Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, Fungal)-Like 2
  • Sterol-C5-Desaturase (Fungal ERG3, Delta-5-Desaturase)-Like 2
  • 3beta-Hydroxysteroid-Delta5-Desaturase 3
  • Fungal ERG3, Delta-5-Desaturase-Like 3
  • Lathosterol Dehydrogenase 3
  • EC 1.14.19.20 4
  • S5DES 3
  • ERG3 3
  • SC5D 5

External Ids for SC5D Gene

Previous HGNC Symbols for SC5D Gene

  • SC5DL

Previous GeneCards Identifiers for SC5D Gene

  • GC11P121163

Summaries for SC5D Gene

Entrez Gene Summary for SC5D Gene

  • This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SC5D Gene

SC5D (Sterol-C5-Desaturase) is a Protein Coding gene. Diseases associated with SC5D include Lathosterolosis and X-Linked Chondrodysplasia Punctata 2. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and C-5 sterol desaturase activity. An important paralog of this gene is MSMO1.

UniProtKB/Swiss-Prot Summary for SC5D Gene

  • Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.

Gene Wiki entry for SC5D Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SC5D Gene

Genomics for SC5D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SC5D 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
GH11J121291 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 608.8 +1.4 1403 5 RNF2 SP1 CREB1 ATF7 REST ZNF629 TFE3 NFKBIZ POLR2A FOXA1 SC5D piR-53338-026 SORL1
GH11J121446 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +159.8 159813 11.3 SP1 GATAD2A CTCF TEAD4 PRDM10 REST SOX13 POLR2A BACH1 FOXA1 SORL1 ENSG00000246790 LOC105369536 TBCEL SC5D LOC105369535
GH11J121458 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +171.5 171459 10.9 SP1 HNRNPL GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 SOX13 SC5D TECTA SORL1 ENSG00000246790 LOC105369535
GH11J121248 Enhancer 0.9 Ensembl ENCODE dbSUPER 18.1 -42.8 -42780 2.6 CTCF ATF7 FOXA1 REST RAD21 TRIM22 EGR1 CREB1 SMC3 GATA3 RPS4XP12 lnc-BLID-11 SC5D LOC105369534 lnc-SC5D-4 TECTA
GH11J121235 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.2 -54.3 -54329 9.1 SP1 PRDM10 ZNF629 PRDM1 ZIC2 ZSCAN4 PKNOX1 PATZ1 TCF12 IKZF2 ENSG00000254515 LOC105369533 lnc-SC5D-4 piR-34935-004 piR-55809-009 SC5D TECTA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SC5D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SC5D

Genomic Locations for SC5D Gene

Genomic Locations for SC5D Gene
chr11:121,292,681-121,313,410
(GRCh38/hg38)
Size:
20,730 bases
Orientation:
Plus strand
chr11:121,163,162-121,184,119
(GRCh37/hg19)
Size:
20,958 bases
Orientation:
Plus strand

Genomic View for SC5D Gene

Genes around SC5D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SC5D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SC5D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SC5D Gene

Proteins for SC5D Gene

  • Protein details for SC5D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75845-SC5D_HUMAN
    Recommended name:
    Lathosterol oxidase
    Protein Accession:
    O75845
    Secondary Accessions:
    • O00119
    • Q6GTM5
    • Q9UK15

    Protein attributes for SC5D Gene

    Size:
    299 amino acids
    Molecular mass:
    35301 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

neXtProt entry for SC5D Gene

Post-translational modifications for SC5D Gene

  • Ubiquitination at Lys255, Lys263, and Lys297
  • Modification sites at PhosphoSitePlus

Other Protein References for SC5D Gene

No data available for DME Specific Peptides for SC5D Gene

Domains & Families for SC5D Gene

Gene Families for SC5D Gene

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

Protein Domains for SC5D Gene

InterPro:
Blocks:
  • Sterol desaturase
ProtoNet:

Suggested Antigen Peptide Sequences for SC5D Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93018, highly similar to Homo sapiens sterol-C5-desaturase (ERG3 delta-5-desaturase homolog,fungal)-like (SC5DL), mRNA (Q6GTM5_HUMAN)
  • Sterol-C5-desaturase (SC5D_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75845

UniProtKB/Swiss-Prot:

SC5D_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
Family:
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with SC5D: view

Function for SC5D Gene

Molecular function for SC5D Gene

UniProtKB/Swiss-Prot Function:
Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + a Delta(7)-sterol + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a Delta(5),Delta(7)-sterol + 2 H2O; Xref=Rhea:RHEA:54320, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:138130, ChEBI:CHEBI:138131; EC=1.14.19.20; Evidence={ECO:0000305|PubMed:10786622};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-7-en-3beta-ol + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + cholesta-5,7-dien-3beta-ol + 2 H2O; Xref=Rhea:RHEA:46556, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17168, ChEBI:CHEBI:17759, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=1.14.19.20; Evidence={ECO:0000269|PubMed:10786622};.

Enzyme Numbers (IUBMB) for SC5D Gene

Phenotypes From GWAS Catalog for SC5D Gene

Gene Ontology (GO) - Molecular Function for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000248 C-5 sterol desaturase activity IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IBA 21873635
genes like me logo Genes that share ontologies with SC5D: view
genes like me logo Genes that share phenotypes with SC5D: view

Human Phenotype Ontology for SC5D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SC5D Gene

MGI Knock Outs for SC5D:

Animal Model Products

CRISPR Products

miRNA for SC5D Gene

miRTarBase miRNAs that target SC5D

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SC5D

No data available for Transcription Factor Targets and HOMER Transcription for SC5D Gene

Localization for SC5D Gene

Subcellular locations from UniProtKB/Swiss-Prot for SC5D Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SC5D gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with SC5D: view

Pathways & Interactions for SC5D Gene

genes like me logo Genes that share pathways with SC5D: view

Gene Ontology (GO) - Biological Process for SC5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 8976377
GO:0006694 steroid biosynthetic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008610 lipid biosynthetic process IEA --
GO:0016126 sterol biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with SC5D: view

No data available for SIGNOR curated interactions for SC5D Gene

Drugs & Compounds for SC5D Gene

(11) Drugs for SC5D Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Flavin Mononucleotide Approved, Investigational Pharma 12
Iron Approved, Experimental Pharma 1560
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(10) Additional Compounds for SC5D Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 5,7-Cholestadien-3-beta-ol
  • 5,7-Cholestadien-3beta-ol
  • Provitamin D3
  • (3b)-Cholesta-5,7-dien-3-ol
434-16-2
lathosterol
  • gamma-Cholesterol
  • g-Cholesterol
  • γ-cholesterol
  • (3beta)-Cholest-7-en-3-ol
  • (3beta,5alpha)-Cholest-7-en-3-ol
80-99-9
5,7,24(28)-Ergostatrienol
  • Ergosta-5,7,24(28)-trien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3b-ol
  • Ergosta-5,7,24(28)-trien-3β-ol
5-Dehydroavenasterol
5-Dehydroepisterol
  • Campesta-7,24(28)-dien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3beta-ol
23582-83-4
genes like me logo Genes that share compounds with SC5D: view

Transcripts for SC5D Gene

mRNA/cDNA for SC5D Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 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 SC5D

Alternative Splicing Database (ASD) splice patterns (SP) for SC5D Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for SC5D Gene

GeneLoc Exon Structure for
SC5D

Expression for SC5D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SC5D Gene

mRNA differential expression in normal tissues according to GTEx for SC5D Gene

This gene is overexpressed in Liver (x5.5).

Protein differential expression in normal tissues from HIPED for SC5D Gene

This gene is overexpressed in Fetal testis (28.0), Gallbladder (13.1), and Adrenal (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SC5D Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SC5D

SOURCE GeneReport for Unigene cluster for SC5D Gene:

Hs.287749

Evidence on tissue expression from TISSUES for SC5D Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(4.6)
  • Lung(4.3)
  • Adrenal gland(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SC5D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • penis
Limb:
  • ankle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SC5D: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SC5D Gene

Orthologs for SC5D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SC5D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SC5DL 30
  • 99.22 (n)
SC5D 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SC5D 30 31
  • 88.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SC5DL 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sc5d 30 17 31
  • 80.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sc5d 30
  • 79.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SC5D 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SC5D 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SC5D 31
  • 67 (a)
OneToOne
SC5DL 30
  • 64.47 (n)
Lizard
(Anolis carolinensis)
Reptilia SC5D 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490845 30
  • 68.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii sc5d 30 31
  • 66.22 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08855g 30
  • 54.1 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG3 30 31 33
  • 52.54 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR151C 30
  • 50.83 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G02590 30
  • 53.22 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0134500 30
  • 46.25 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg31 30
  • 55.6 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06207 30
  • 53.85 (n)
Species where no ortholog for SC5D 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 SC5D Gene

ENSEMBL:
Gene Tree for SC5D (if available)
TreeFam:
Gene Tree for SC5D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SC5D: view image

Paralogs for SC5D Gene

Paralogs for SC5D Gene

genes like me logo Genes that share paralogs with SC5D: view

Variants for SC5D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SC5D Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
638393 Pathogenic: Lathosterolosis 121,304,373(+) C/T NONSENSE
677238 Benign/Likely Benign: Lathosterolosis; not provided 121,304,353(+) A/T INTRON_VARIANT
730905 Likely Benign: not provided 121,307,442(+) G/A MISSENSE_VARIANT
731620 Likely Benign: not provided 121,303,549(+) C/T SYNONYMOUS_VARIANT
733321 Benign: Lathosterolosis; not provided 121,307,156(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SC5D Gene

Variation tolerance for SC5D Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SC5D Gene

Human Gene Mutation Database (HGMD)
SC5D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SC5D

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SC5D Gene

Disorders for SC5D Gene

MalaCards: The human disease database

(6) MalaCards diseases for SC5D Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

SC5D_HUMAN
  • Lathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. {ECO:0000269 PubMed:12189593, ECO:0000269 PubMed:12812989}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SC5D: view

No data available for Genatlas for SC5D Gene

Publications for SC5D Gene

  1. Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. (PMID: 8976377) Matsushima M … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 23
  2. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. (PMID: 12812989) Krakowiak PA … Porter FD (Human molecular genetics 2003) 3 4 23
  3. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. (PMID: 12189593) Brunetti-Pierri N … Parenti G (American journal of human genetics 2002) 3 4 23
  4. Molecular cloning and structural analysis of human sterol C5 desaturase. (PMID: 11731337) Sugawara T … Ishibashi T (Biochimica et biophysica acta 2001) 3 23 26
  5. cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. (PMID: 10786622) Nishi S … Ishibashi T (Biochimica et biophysica acta 2000) 3 4 23

Products for SC5D Gene

Sources for SC5D Gene