ACADSB (acyl-CoA dehydrogenase short/branched chain)

2014-11-01  

Identity

HGNC
ACADSB
LOCATION
10q26.13
LOCUSID
36
ALIAS
2-MEBCAD,ACAD7,SBCAD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
204184852010Genome-wide association study of circulating vitamin D levels.264
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
128556922003A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase.10
163175512006Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.9
205470832010Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.7
171431802007Association of genetic polymorphisms of ACADSB and COMT with human hypertension.6
163319642005Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding.5
237120212013Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.4

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/acadsb