ACAD8 |
- 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)