CYP4Z1

Chr 1

cytochrome P450 family 4 subfamily Z member 1

Also known as: CYP4A20

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. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]

94
ClinVar variants
8
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCYP4Z1
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 67 VUS of 94 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

94 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic3
VUS67
Likely Benign10
Benign1
5
Pathogenic
3
Likely Pathogenic
67
VUS
10
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
3
0
3
VUS
0
66
1
0
67
Likely Benign
0
6
2
2
10
Benign
0
1
0
0
1
Total07311286

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

View in ClinVar →

Protein Context — Lollipop Plot

CYP4Z1 · 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

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →