Entity Details

Primary name ABCD4
Entity type gene
Source Source Link

Details

PrimaryID5826
RefseqGeneNG_032875
SymbolABCD4
NameATP binding cassette subfamily D member 4
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsABCD4_HUMAN

GO terms

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GOName
GO:0005324 long-chain fatty acid transporter activity
GO:0005524 ATP binding
GO:0005765 lysosomal membrane
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0006635 fatty acid beta-oxidation
GO:0007031 peroxisome organization
GO:0009235 cobalamin metabolic process
GO:0015910 long-chain fatty acid import into peroxisome
GO:0016021 integral component of membrane
GO:0016887 ATP hydrolysis activity
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042760 very long-chain fatty acid catabolic process
GO:0043190 ATP-binding cassette (ABC) transporter complex
GO:0055085 transmembrane transport
GO:1990830 cellular response to leukemia inhibitory factor

Diseases

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Disease IDSourceNameDescription
614857 OMIMMethylmalonic aciduria and homocystinuria type cblJ (MAHCJ)A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. The disease is caused by variants affecting the gene represented in this entry.

Interactions

15 interactions

InteractorPartnerSourcesPublicationsLink
ABCD4XRCC6BioGRID, HPRD, IntAct16169070 details
ABCD4PEA15BioGRID, HPRD, IntAct16169070 details
ABCD4SARAFHPRD, IntAct16169070 details
ABCD4HSPB2bhf-ucl, BioGRID26465331 details
ABCD4LMBRD1IntAct28572511 details
ABCD4KCNA5BioGRID, IntAct28514442 details
ABCD4FAM189BBioGRID, IntAct28514442 details
ABCD4TNFRSF10ABioGRID, IntAct28514442 details
ABCD4FSHRBioGRID, IntAct28514442 details
ABCD4ATP2B2BioGRID, IntAct28514442 details
ABCD4SLC17A2BioGRID, IntAct28514442 details
ABCD4FAM234BBioGRID, IntAct28514442 details
ABCD4PCDHA3BioGRID, IntAct28514442 details
ABCD4PDGFRBBioGRID, IntAct28514442 details
ABCD4ATP5F1BBioGRID, IntAct30021884 details