Hs04758643_cn

• Gene Symbol: EHHADH
• Assay Reference Genome Location: Chr.3:185200543 on build GRCh38
• Cytoband: 3q27.2

Target Gene Details

• Entrez Gene ID: 1962
• Gene Name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
• Gene Aliases: ECHD, FRTS3, L-PBE, LBFP, LBP, PBFE
• Location: Chr.3:185190624-185282886 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EHHADH	NM_001166415.1			NP_001159887.1
	NM_001966.3			NP_001957.2
	XM_006713525.1			XP_006713588.1
	XM_011512517.1			XP_011510819.1
	XM_017005839.1			XP_016861328.1
	AK223460.1			BAD97180.1
	AK291798.1
	AK301521.1
	BC030982.1
	BC038948.1			AAH38948.1
	BC110460.2			AAI10461.1
	L07077.1			AAA53289.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv5002n100	Chr.3:185129229 - 185287036 on Build GRCh38	Gain	MAP3K13 C3orf70 EHHADH-AS1 MIR5588 EHHADH

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

internal protein amino acid acetylation
fatty acid beta-oxidation
cellular lipid metabolic process

Function(s)

3-hydroxyacyl-CoA dehydrogenase activity
dodecenoyl-CoA delta-isomerase activity
enoyl-CoA hydratase activity
receptor binding
protein binding
long-chain-enoyl-CoA hydratase activity
enzyme binding