Acyl-CoA Dehydrogenase, Very Long-Chain

Alternative Names

ACADVL
VLCAD

Associated Diseases

Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of

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OMIM Number

609575

NCBI Gene ID

Uniprot ID

P49748

Length

8,143 bases

No. of Exons

No. of isoforms

Protein Name

Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial

Molecular Mass

70390 Da

Amino Acid Count

655

Genomic Location

chr17:7,217,125-7,225,267

Gene Map Locus

17p13.1

Description

The ACADVL gene encodes a mitochondrial enzyme involved in the metabolism of fatty acids. Specifically, the enzyme breaks down very long-chain fatty acids through the beta-oxidation pathway.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000018.4:c.1699C>T	Saudi Arabia	NC_000017.11:g.7224662C>T	Uncertain Significance	Likely Pathogenic	Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of	NG_007975.1:g.9829C>T; NM_000018.4:c.1699C>T; NP_000009.1:p.Arg567Trp	864321651	219172
NM_000018.4:c.65C>A	Saudi Arabia	NC_000017.11:g.7220124C>A	Pathogenic	Pathogenic	Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of	NG_007975.1:g.5291C>A; NM_000018.4:c.65C>A; NP_000009.1:p.Ser22Ter	727503788	166638
NM_000018.4:c.711_712del	Lebanon	NC_000017.11:g.7222040_7222041del	Pathogenic	Pathogenic	Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of	NG_007975.1:g.7207_7208del; NM_000018.4:c.711_712del; NP_000009.1:p.Cys237TrpfsTer15	2071256607	932827

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External Links

https://ghr.nlm.nih.gov/gene/ACADVL https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADVL

Contributors

Sayeeda Hana: 08.12.2019

Edit History

Sayeeda Hana: 08.12.2019
Pratibha Nair: 10.12.2018