CYB5A Gene (Protein Coding)

Cytochrome B5 Type A

GC18M074250
GIFtS:
45
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] See more...

Aliases for CYB5A Gene

Aliases for CYB5A Gene

  • Cytochrome B5 Type A 2 3 5
  • Cytochrome B5 Type A (Microsomal) 2 3
  • Cytochrome B5 3 4
  • CYB5 3 4
  • MCB5 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Microsomal Cytochrome B5 Type A 4
  • Cytochrome B5 (Microsomal) 2
  • Cytochrome B-5 2
  • Type 1 Cyt-B5 3
  • METAG 3
  • CYB5A 5

External Ids for CYB5A Gene

Previous HGNC Symbols for CYB5A Gene

  • CYB5

Previous GeneCards Identifiers for CYB5A Gene

  • GC18M070072
  • GC18M071920
  • GC18M068652

Summaries for CYB5A Gene

Entrez Gene Summary for CYB5A Gene

  • The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for CYB5A Gene

CYB5A (Cytochrome B5 Type A) is a Protein Coding gene. Diseases associated with CYB5A include Methemoglobinemia And Ambiguous Genitalia and Congenital Methemoglobinemia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include enzyme binding and cytochrome-c oxidase activity. An important paralog of this gene is CYB5B.

UniProtKB/Swiss-Prot Summary for CYB5A Gene

  • Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

Gene Wiki entry for CYB5A Gene

Additional gene information for CYB5A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB5A Gene

Genomics for CYB5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CYB5A 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
GH18J074288 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 265.6 +1.4 1371 4.9 CHD2 ZBTB10 MXD4 SP1 CEBPA MBD2 CTCF ZEB1 ZIC2 HOMEZ CYB5A ENSG00000286529 lnc-FBXO15-6 ZNF407 C18orf63 lnc-CYB5A-2 ENSG00000260569 TIMM21
GH18J074242 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.7 +49.4 49379 2 MNT IKZF1 HES1 MBD2 BHLHE40 CTCF ARNT ZNF395 REST VEZF1 ENSG00000260569 CYB5A HSALNG0122428 lnc-FBXO15-6 TIMM21
GH18J074248 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 21.1 +41.4 41357 4 CEBPA IKZF1 ZEB1 HOMEZ THAP11 CEBPB MAX MAFF SMAD4 SAP130 CYB5A C18orf63 CNDP2 ENSG00000260569 lnc-FBXO15-6 TIMM21
GH18J074267 Enhancer 0.9 Ensembl ENCODE dbSUPER 27.5 +22.9 22928 2.7 VEZF1 PRDM10 ZNF148 RCOR1 GATA2 MEIS2 ATF1 EGR2 CTBP1 CHD2 CYB5A C18orf63 lnc-FBXO15-6 ENSG00000260569 TIMM21
GH18J074494 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -206.6 -206636 8 TBP ZBTB10 SP1 MXD4 NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 CNDP2 HSALNG0122445 ZNF407 CNDP1 CYB5A FAUP1 HSALNG0122444
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYB5A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB5A

Top Transcription factor binding sites by QIAGEN in the CYB5A gene promoter:
  • Bach2
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • CUTL1
  • NF-Y
  • NF-YA
  • NF-YB
  • STAT1

Genomic Locations for CYB5A Gene

Latest Assembly
chr18:74,250,846-74,291,980
(GRCh38/hg38)
Size:
41,135 bases
Orientation:
Minus strand

Previous Assembly
chr18:71,918,081-71,959,198
(GRCh37/hg19 by Entrez Gene)
Size:
41,118 bases
Orientation:
Minus strand

chr18:71,920,530-71,959,251
(GRCh37/hg19 by Ensembl)
Size:
38,722 bases
Orientation:
Minus strand

Genomic View for CYB5A Gene

Genes around CYB5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYB5A Gene

Proteins for CYB5A Gene

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  • Protein details for CYB5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00167-CYB5_HUMAN
    Recommended name:
    Cytochrome b5
    Protein Accession:
    P00167
    Secondary Accessions:
    • A8MV91
    • F8WEU4
    • Q6IB14

    Protein attributes for CYB5A Gene

    Size:
    134 amino acids
    Molecular mass:
    15330 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA63169.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for CYB5A Gene

    Alternative splice isoforms for CYB5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5A Gene

Protein Expression for CYB5A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYB5A Gene

  • Ubiquitination at Lys10 and Lys39
  • Modification sites at PhosphoSitePlus

Other Protein References for CYB5A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYB5A Gene

Domains & Families for CYB5A Gene

Gene Families for CYB5A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYB5A Gene

InterPro:
Blocks:
  • Cytochrome b5
ProtoNet:

Suggested Antigen Peptide Sequences for CYB5A Gene

GenScript: Design optimal peptide antigens:
  • Microsomal cytochrome b5 type A (CYB5_HUMAN)
  • Cytochrome b5 (Q9UML1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00167

UniProtKB/Swiss-Prot:

CYB5_HUMAN :
  • Belongs to the cytochrome b5 family.
Family:
  • Belongs to the cytochrome b5 family.
genes like me logo Genes that share domains with CYB5A: view

Function for CYB5A Gene

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  6. Cell Lines for research

Molecular function for CYB5A Gene

UniProtKB/Swiss-Prot Function:
Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

Phenotypes From GWAS Catalog for CYB5A Gene

Gene Ontology (GO) - Molecular Function for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS 1712589
GO:0005515 protein binding IPI 32814053
GO:0009055 electron transfer activity IBA 21873635
GO:0019899 enzyme binding IPI 15680923
GO:0020037 heme binding IBA 21873635
genes like me logo Genes that share ontologies with CYB5A: view
genes like me logo Genes that share phenotypes with CYB5A: view

Human Phenotype Ontology for CYB5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5A Gene

Localization for CYB5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5A Gene

[Isoform 1]: Endoplasmic reticulum membrane. Single-pass membrane protein. Cytoplasmic side. Microsome membrane. Single-pass membrane protein. Cytoplasmic side.
[Isoform 2]: Cytoplasm.

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 CYB5A gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CYB5A: view

Pathways & Interactions for CYB5A Gene

genes like me logo Genes that share pathways with CYB5A: view

Pathways by source for CYB5A Gene

1 BioSystems pathway for CYB5A Gene
1 PharmGKB pathway for CYB5A Gene

Gene Ontology (GO) - Biological Process for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019852 L-ascorbic acid metabolic process TAS --
GO:0022900 electron transport chain IEA --
GO:0046686 response to cadmium ion IEA --
GO:0055114 oxidation-reduction process IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with CYB5A: view

No data available for SIGNOR curated interactions for CYB5A Gene

Drugs & Compounds for CYB5A Gene

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(60) Drugs for CYB5A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chromic nitrate Approved Pharma Target 0
Chromium Approved Pharma Target, substrate 191
Chromium gluconate Approved Pharma Target 0
Chromium nicotinate Approved, Experimental Pharma Target 0
Chromous sulfate Approved Pharma Target 0

(49) Additional Compounds for CYB5A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYB5A: view

Transcripts for CYB5A Gene

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mRNA/cDNA for CYB5A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5A

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5A Gene

No ASD Table

Relevant External Links for CYB5A Gene

GeneLoc Exon Structure for
CYB5A

Expression for CYB5A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYB5A Gene

mRNA expression in normal human tissues for CYB5A Gene
mRNA expression by BioGPS for CYB5A GenemRNA expression by GTEx for CYB5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB5A Gene

This gene is overexpressed in Liver (x12.3) and Kidney - Cortex (x5.1).

Protein differential expression in normal tissues from HIPED for CYB5A Gene

This gene is overexpressed in Liver, secretome (11.8), Adipocyte (10.9), and Liver (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYB5A Gene



Protein tissue co-expression partners for CYB5A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB5A

SOURCE GeneReport for Unigene cluster for CYB5A Gene:

Hs.465413

Evidence on tissue expression from TISSUES for CYB5A Gene

  • Liver(4.8)
  • Pancreas(4.5)
  • Blood(4.5)
  • Kidney(3.4)
  • Adrenal gland(3.1)
  • Nervous system(2.9)
  • Lung(2.9)
  • Skin(2.9)
  • Stomach(2.7)
  • Heart(2.6)
  • Muscle(2.5)
  • Intestine(2.5)
  • Gall bladder(2.3)
  • Spleen(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
  • pituitary gland
Thorax:
  • breast
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CYB5A: view

No data available for mRNA Expression by UniProt/SwissProt for CYB5A Gene

Orthologs for CYB5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB5A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC735913 30
  • 99.25 (n)
CYB5A 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CYB5A 30 31
  • 88.06 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Cyb5a 30
  • 87.06 (n)
Mouse
(Mus musculus)
 Mammalia Cyb5 30 31
  • 86.32 (n)
 OneToOne
Cyb5a 17
Cow
(Bos Taurus)
 Mammalia CYB5A 30 31
  • 84.58 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CYB5A 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CYB5A 31
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CYB5A 30 31
  • 76.61 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CYB5A 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cyb5a 30
  • 73.48 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cyb5a 30 31
  • 65.35 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007121 30
  • 56.64 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Cyt-b5 30 31
  • 54.69 (n)
 ManyToMany
CG3566 31
  • 38 (a)
 ManyToMany
CG5157 31
  • 31 (a)
 ManyToMany
CG6870 31
  • 26 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea cytb-5.1 30 31
  • 53.49 (n)
 ManyToMany
cytb-5.2 31
  • 34 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CYB5 31
  • 30 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons CB5-E 30
  • 54.02 (n)
Rice
(Oryza sativa)
 Liliopsida Os10g0518200 30
  • 58.44 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7428 31
  • 60 (a)
 OneToMany
Species where no ortholog for CYB5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for CYB5A Gene

ENSEMBL:
Gene Tree for CYB5A (if available)
TreeFam:
Gene Tree for CYB5A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5A: view image

Paralogs for CYB5A Gene

Paralogs for CYB5A Gene

(7) SIMAP similar genes for CYB5A Gene using alignment to 2 proteins:

  • CYB5_HUMAN
  • J3KNC7_HUMAN

Pseudogenes.org Pseudogenes for CYB5A Gene

genes like me logo Genes that share paralogs with CYB5A: view

Variants for CYB5A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB5A Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs1555688659 Likely Pathogenic: Methemoglobinemia type 4. Methemoglobinemia and ambiguous genitalia (METAG) [MIM:250790] 74,263,476(-) T/Ap.His44Leu
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) 		MISSENSE
rs1555691399 Likely Pathogenic: Methemoglobinemia type 4 74,291,795(-) C/T
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) 		NONSENSE
rs201137874 Likely Benign: not provided 74,260,927(-) T/C
NM_148923.4(CYB5A):c.276A>G (p.Leu92=) 		SYNONYMOUS_VARIANT,INTRON
rs201644903 Likely Benign: not provided 74,291,851(-) C/A
NM_148923.4(CYB5A):c.25G>T (p.Val9Leu) 		MISSENSE
rs75160992 Uncertain Significance: not specified 74,291,863(-) A/C
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYB5A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYB5A Gene

Variant ID Type Subtype PubMed ID
esv2717341 CNV deletion 23290073
esv3643111 CNV loss 21293372
esv3643112 CNV loss 21293372
nsv2356 CNV insertion 18451855
nsv519101 CNV loss 19592680

Variation tolerance for CYB5A Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB5A Gene

Human Gene Mutation Database (HGMD)
CYB5A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5A Gene

Disorders for CYB5A Gene

MalaCards: The human disease database

(15) MalaCards diseases for CYB5A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
methemoglobinemia and ambiguous genitalia
  • metag
congenital methemoglobinemia
  • hereditary methemoglobinemia
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
  • adrenal hyperplasia v
methemoglobinemia
antley-bixler syndrome
  • trapezoidocephaly-synostosis syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CYB5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CYB5_HUMAN
  • Methemoglobinemia and ambiguous genitalia (METAG) [MIM:250790]: An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia. {ECO:0000269 PubMed:20080843, ECO:0000269 PubMed:22170710, ECO:0000269 PubMed:8168836}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CYB5A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYB5A: view

No data available for Genatlas for CYB5A Gene

Publications for CYB5A Gene

  1. Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. (PMID: 20080843) Kok RC … de Jong FH (The Journal of clinical endocrinology and metabolism 2010) 3 4 23 74
  2. A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. (PMID: 22170710) Idkowiak J … Arlt W (The Journal of clinical endocrinology and metabolism 2012) 3 4
  3. Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction. (PMID: 19997042) Sacco JC … Trepanier LA (Pharmacogenetics and genomics 2010) 3 23
  4. Cytochrome b5, not superoxide anion radical, is a major reductant of indoleamine 2,3-dioxygenase in human cells. (PMID: 18299324) Maghzal GJ … Stocker R (The Journal of biological chemistry 2008) 3 23
  5. Reduction of hexavalent chromium by human cytochrome b5: generation of hydroxyl radical and superoxide. (PMID: 17320757) Borthiry GR … Myers CR (Free radical biology & medicine 2007) 3 23

ExternalLinks

View latest publications for CYB5A gene in Mastermind

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