Hs03402707_cn

• Gene Symbol: HADHA
• Assay Reference Genome Location: Chr.2:26210994 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 3030
• Gene Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
• Gene Aliases: ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA
• Location: Chr.2:26190635-26244726 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HADHA	NM_000182.4			NP_000173.2
	AK293398.1
	AK299258.1
	AK313027.1
	BC009235.2			AAH09235.1
	D16480.1			BAA03941.1
	FJ626228.1
	GU727642.1
	U04627.1			AAA56664.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2648	Chr.2:26177840 - 26222776 on Build GRCh38	Deletion	HADHA GAREM2
esv33316	Chr.2:25440017 - 26672800 on Build GRCh38	Loss	OTOF EPT1 ADGRF3 KIF3C RAB10 CIB4 C2orf70 ASXL2 HADHB DTNB HADHA DRC1 GAREM2

More Information

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

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
response to insulin
cardiolipin acyl-chain remodeling
response to drug

Function(s)

fatty-acyl-CoA binding
3-hydroxyacyl-CoA dehydrogenase activity
acetyl-CoA C-acetyltransferase activity
enoyl-CoA hydratase activity
protein binding
long-chain-enoyl-CoA hydratase activity
long-chain-3-hydroxyacyl-CoA dehydrogenase activity
protein complex binding
NAD binding