APOA4

Chr 11AD

apolipoprotein A4

Also known as: ADTKD6

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Tubulointerstitial kidney disease, autosomal dominant 6MIM #621106
AD

Clinical highlights

0
Active trials
86
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.19
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — APOA4
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 1.04
OE 0.70 (0.43–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.21Z-score
OE missense 1.22 (1.11–1.35)
286 obs / 234.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.43–1.19)
0≤0.351.4
Missense OE?1.22 (1.11–1.35)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 10 / 14.3Missense obs/exp: 286 / 234.1Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

APOA4 · 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.

Search ClinicalTrials.gov →