• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ACAD8 (HGNC:87) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
acyl-CoA dehydrogenase family member 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
52.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.27(Read more about gnomAD LOEUF score)
Cytoband
11q25
Genomic Coordinates
GRCh37/hg19: chr11:134123462-134135749 NCBI Ensembl UCSC
GRCh38/hg38: chr11:134253568-134265855 NCBI Ensembl UCSC
MANE Select Transcript
NM_014384.3 ENST00000281182.9 (Read more about MANE Select)
Function
Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the oxidation of (2S)-2- methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132). {ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:16857760}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16594
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
12/11/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • isobutyryl-CoA dehydrogenase deficiency Monarch
HI Evidence Comments:
Biallelic loss of function mutations in ACAD8 result in autosomal recessive isobutyryl-CoA dehydrogenase deficiency. See PMIDs: 24635911, 20836999, 17924841, 17304052, 16857760, 15505379.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)