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Human Gene Set: REACTOME_DEFECTS_IN_BIOTIN_BTN_METABOLISM
Standard name
REACTOME_DEFECTS_IN_BIOTIN_BTN_METABOLISM
Systematic name
M27248
Brief description
Defects in biotin (Btn) metabolism
Full description or abstract
Collection
C2: Curated
CP: Canonical Pathways
CP:REACTOME: Reactome Pathways
Source publication
Exact source
R-HSA-3323169
Related gene sets
External links
https://www.reactome.org/content/detail/R-HSA-3323169
Filtered by similarity
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1 similar pathway(s) from the external resource)
External ID
External Name
R-HSA-3371599
Defective HLCS causes multiple carboxylase deficiency
Source species
Homo sapiens
Contributed by
Reactome
Source platform or
identifier namespace
Human_Ensembl_Gene_ID
Dataset references
Download gene set
format:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
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H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
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NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 8 genes
Gene families
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these 8 genes by gene family
Show members
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show
9 source identifiers mapped to 8 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
ENSG00000078070
56922
MCCC1
methylcrotonyl-CoA carboxylase subuni...
ENSG00000114054
5096
PCCB
propionyl-CoA carboxylase subunit bet...
ENSG00000131844
64087
MCCC2
methylcrotonyl-CoA carboxylase subuni...
ENSG00000159267
3141
HLCS
holocarboxylase synthetase [Source:HG...
ENSG00000169814
686
BTD
biotinidase [Source:HGNC Symbol;Acc:H...
ENSG00000173599
5091
PC
pyruvate carboxylase [Source:HGNC Sym...
ENSG00000175198
5095
PCCA
propionyl-CoA carboxylase subunit alp...
ENSG00000275176
31
ACACA
acetyl-CoA carboxylase alpha [Source:...
ENSG00000278540
31
ACACA
acetyl-CoA carboxylase alpha [Source:...
Version history
2024.1.Hs: Updated to Reactome v89
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