Entity Details

Primary name CRAT
Entity type gene
Source Source Link

Details

PrimaryID1384
RefseqGene
SymbolCRAT
Namecarnitine O-acetyltransferase
Chromosome9
Location9q34.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCACP_HUMAN

GO terms

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GOName
GO:0003997 acyl-CoA oxidase activity
GO:0004092 carnitine O-acetyltransferase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0008104 protein localization
GO:0008458 carnitine O-octanoyltransferase activity
GO:0019254 carnitine metabolic process, CoA-linked
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0046459 short-chain fatty acid metabolic process
GO:0051791 medium-chain fatty acid metabolic process

Diseases

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Disease IDSourceNameDescription
617917 OMIMNeurodegeneration with brain iron accumulation 8 (NBIA8)A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.