Acyl-CoA Dehydrogenase Family, Member 9

Alternative Names

  • ACAD9
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OMIM Number

611103

NCBI Gene ID

28976

Uniprot ID

Q9H845

Length

33,495 bases

No. of Exons

19

No. of isoforms

1

Protein Name

Complex I assembly factor ACAD9, mitochondrial

Molecular Mass

68760 Da

Amino Acid Count

621

Genomic Location

chr3:128,879,619-128,913,113

Gene Map Locus
3q21.3

Description

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014049.5:c.1240C>TSaudi ArabiaNC_000003.12:g.128906211C>TLikely Pathogenic, PathogenicLikely PathogenicMitochondrial Complex I Deficiency, Nuclear Type 20NG_017064.1:g.31722C>T; NM_014049.5:c.1240C>T; NP_054768.2:p.Arg414Cys777282696420048
NM_014049.5:c.1595G>AQatarNC_000003.12:g.128910052G>ALikely PathogenicLikely PathogenicNG_017064.1:g.35563G>A; NM_014049.5:c.1595G>A; NP_054768.2:p.Arg532Gln770127110242459

Other Reports

United Arab Emirates

Hassan et al. 2021 described two patients with pyruvate dehydrogenase deficiency. The proband — a 14-year-old Emirati patient— initially presented with nausea, vomiting, diarrhea, weight loss, proximal muscle weakness, hand tremors, and palpitations. She has a similarly affected brother. Both patients showed improvement with treatment involving thiamine supplementation. Genetic testing revealed a homozygous mutation in PDHB gene and heterozygote mutations in LRPPRC and ACAD9 genes.

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