ACADSB (acyl-CoA dehydrogenase short/branched chain)

2014-11-01  

Identity

HGNC
LOCATION
10q26.13
LOCUSID
ALIAS
2-MEBCAD,ACAD7,SBCAD
FUSION GENES

Other Information

Locus ID:

NCBI: 36
MIM: 600301
HGNC: 91
Ensembl: ENSG00000196177

Variants:

dbSNP: 36
ClinVar: 36
TCGA: ENSG00000196177
COSMIC: ACADSB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196177ENST00000358776P45954
ENSG00000196177ENST00000358776A0A0S2Z3P9
ENSG00000196177ENST00000368869P45954

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375276402024Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer.0
375276402024Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer.0
327766632020ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells.33
327766632020ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells.33
307308422019Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.7
307308422019Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.7
237120212013Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.10
237120212013Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.10
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.201
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.201
204184852010Genome-wide association study of circulating vitamin D levels.342
205470832010Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.14
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
204184852010Genome-wide association study of circulating vitamin D levels.342
205470832010Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.14

Citation

Dessen P

ACADSB (acyl-CoA dehydrogenase short/branched chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60075/tumors-explorer/favicon/favicon-32x32.png