ACOX1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ACOX1 (HGNC:119) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- acyl-CoA oxidase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PALMCOX
- %HI
- 38.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.06(Read more about gnomAD pLI score)
- LOEUF
- 0.46(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.1
- Genomic Coordinates
-
GRCh37/hg19: chr17:73937588-73975247 NCBI Ensembl UCSC GRCh38/hg38: chr17:75941507-75979166 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004035.7 ENST00000293217.10 (Read more about MANE Select)
- Function
- Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long- chain fatty acids (PubMed:7876265, PubMed:15060085, PubMed:17458872, PubMed:17603022, PubMed:32169171, PubMed:33234382). Catalyzes the desaturation of fatty acyl-CoAs such as palmitoyl-CoA (hexadecanoyl- CoA) to 2-trans-enoyl-CoAs ((2E)-enoyl-CoAs) such as (2E)-hexadecenoyl- CoA, and donates electrons directly to molecular oxygen (O(2)), thereby producing hydrogen p... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30533
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/20/2014
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- peroxisomal acyl-CoA oxidase deficiency Monarch
HI Evidence Comments:
Biallelic loss of function mutations in ACOX1 cause autosomal recessive pseudo-neonatal adrenoleukodystrophy (acyl-CoA oxidase 1 deficiency). Many mutations have been reported, including large deletions, nonsense, and frameshift and heterozygous carriers are normal. See Carrozzo, 2008, PMID: 18536048; Ferdinandusse, 2007, PMID: 17458872; Rosewich, 2006, PMID: 16773508.
Additionally, McMichael et al, (2014, PMID: 23695280) report a heterozygous 157 kb deletion involving several exons of ACOX1 in a patient with cerebral palsy. Parental samples were not available for testing and sequencing of the other allele was not performed.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)