ECHS1 gene

enoyl-CoA hydratase, short chain 1

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

From NCBI Gene:

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

From UniProt:

Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency

From UniProt:

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D): A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. [MIM:616277]

Cytogenetic Location: 10q26.2-q26.3, which is the long (q) arm of chromosome 10 between positions 26.2 and 26.3

Molecular Location: base pairs 133,362,483 to 133,373,404 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q26.2-q26.3, which is the long (q) arm of chromosome 10 between positions 26.2 and 26.3
  • ECHS1D
  • SCEH