ACADS (acyl-CoA dehydrogenase short chain)

2014-11-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
ACAD3,SCAD
FUSION GENES

Other Information

Locus ID:

NCBI: 35
MIM: 606885
HGNC: 90
Ensembl: ENSG00000122971

Variants:

dbSNP: 35
ClinVar: 35
TCGA: ENSG00000122971
COSMIC: ACADS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122971ENST00000242592P16219
ENSG00000122971ENST00000242592E5KSD5
ENSG00000122971ENST00000411593E9PE82

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Butanoate metabolismKEGGko00650
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of hexanoyl-CoA to butanoyl-CoAREACTOMER-HSA-77350
Beta oxidation of butanoyl-CoA to acetyl-CoAREACTOMER-HSA-77352

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200375892010A genome-wide perspective of genetic variation in human metabolism.252
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
205546942010Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption.45
194701682009NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.42
185238052008The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.23
189776762008Short-chain acyl-coenzyme A dehydrogenase deficiency.19
201809862010CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
180545102008Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.13
127063742003The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.12

Citation

Dessen P

ACADS (acyl-CoA dehydrogenase short chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60074/acads-(acyl-coa-dehydrogenase-short-chain)