Literature summary for 4.2.1.17 extracted from

Al Mutairi, F.; Shamseldin, H.E.; Alfadhel, M.; Rodenburg, R.J.; Alkuraya, F.S.
A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (2017), Clin. Genet., 91, 629-633 .

Search for more literature for 4.2.1.17

Protein Variants

Protein Variants	Comment	Organism
additional information	identification and analysis of two homozygous truncation mutations in gene ECHS1, phenotypes, detailed overview	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P30084	-	-

Synonyms

Synonyms	Comment	Organism
ECHS1	-	Homo sapiens
mitochondrial short-chain enoyl-CoA hydratase-1	-	Homo sapiens
SCEH	-	Homo sapiens
short-chain enoyl-CoA hydratase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	deficiency of the enzyme causes an early childhood Leigh syndrome phenotype. Two homozygous truncation mutations in ECHS1 in two siblings lead to development of lethal neonatal lactic acidosis, potential genotype/phenotype correlation, overview	Homo sapiens
metabolism	short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine	Homo sapiens

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Release 2023.1 (January 2023)