CYP3A43

Chr 7

cytochrome P450 family 3 subfamily A member 43

NCBI Gene: 64816ENSG00000021461UniProt: Q9HB55

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

89
ClinVar variants
20
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CYP3A43
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 56 VUS of 89 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.11LOEUF
pLI 0.000
Z-score 1.11
OE 0.77 (0.54–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.15Z-score
OE missense 0.97 (0.88–1.08)
251 obs / 257.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.77 (0.54–1.11)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.88–1.08)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.96
0≤1.21.6
LoF obs/exp: 20 / 26.1Missense obs/exp: 251 / 257.7Syn Z: 0.28

ClinVar Variant Classifications

89 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
VUS56
Likely Benign10
Benign3
19
Pathogenic
1
Likely Pathogenic
56
VUS
10
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
51
5
0
56
Likely Benign
0
7
2
1
10
Benign
0
2
0
1
3
Total06027289

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CYP3A43 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Effects of CYP3A43 Expression on Cell Proliferation and Migration of Lung Adenocarcinoma and Its Clinical Significance.
Wei QY et al.·Int J Mol Sci
2022
Genetic variation in CYP3A43 is associated with response to antipsychotic medication.
Brandl EJ et al.·J Neural Transm (Vienna)
2015Review
Metabolism of the antipsychotic drug olanzapine by CYP3A43.
Zhao J et al.·Xenobiotica
2022
The frameshift polymorphism CYP3A43_74_delA is associated with poor differentiation of breast tumors.
Justenhoven C et al.·Cancer
2010
Androgen production, uptake, and conversion (APUC) genes define prostate cancer patients with distinct clinical outcomes.
Bergom HE et al.·JCI Insight
2024Cohort
Cis-acting regulatory elements regulating CYP3A4 transcription in human liver.
Collins JM et al.·Pharmacogenet Genomics
2020
Genetic variation in CYP3A43 explains racial difference in olanzapine clearance.
Bigos KL et al.·Mol Psychiatry
2011Clinical trial
Significance of the minor cytochrome P450 3A isoforms.
Daly AK·Clin Pharmacokinet
2006Review
Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.
Hunter SM et al.·Urol Oncol
2016
Modification of single-nucleotide polymorphism in a fully humanized CYP3A mouse by genome editing technology.
Abe S et al.·Sci Rep
2017Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools