Acyl-CoA Dehydrogenase, Short-Chain

Alternative Names

ACADS
Short-Chain Acyl-CoA Dehydrogenase
SCAD
Acyl-CoA Dehydrogenase, C-2 to C-3 Short Chain

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OMIM Number

606885

NCBI Gene ID

Uniprot ID

P16219

Length

14,183 bases

No. of Exons

No. of isoforms

Protein Name

Short-chain specific acyl-CoA dehydrogenase, mitochondrial

Molecular Mass

44297 Da

Amino Acid Count

412

Genomic Location

chr12:120,725,825-120,740,007

Gene Map Locus

12q24.31

Description

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000017.4:c.625G>A	United Arab Emirates	NC_000012.12:g.120738280G>A	Benign, Likely Benign	Benign		NG_007991.1:g.17513G>A; NM_000017.4:c.625G>A; NP_000008.1:p.Gly209Ser	1799958	3831

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External Links

https://medlineplus.gov/genetics/gene/acads/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=acads

Contributors

Pratibha Nair: 24.02.2022

Edit History

Pratibha Nair: 24.02.2022