ACOX3

Chr 4

acyl-CoA oxidase 3, pristanoyl

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
1.06
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.000
Z-score 1.25
OE 0.78 (0.571.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.44Z-score
OE missense 1.06 (0.981.14)
469 obs / 442.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.78 (0.571.06)
00.351.4
Missense OE?1.06 (0.981.14)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 28 / 36.1Missense obs/exp: 469 / 442.7Syn Z: -0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACOX3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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