CRAT gene

carnitine O-acetyltransferase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]

From UniProt:

Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. May be specific for short chain fatty acids.

From NCBI Gene:

  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8

From UniProt:

Neurodegeneration 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. [MIM:617917]

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11

Molecular Location: base pairs 129,094,794 to 129,110,798 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11
  • CAT
  • CAT1
  • NBIA8