CYP2C18

Chr 10

cytochrome P450 family 2 subfamily C member 18

Also known as: CPCI, CYP2C, CYP2C17, P450-6B/29C, P450IIC17

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 protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.31
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.53
OE 0.87 (0.581.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.76Z-score
OE missense 1.13 (1.031.25)
300 obs / 265.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.87 (0.581.31)
00.351.4
Missense OE?1.13 (1.031.25)
00.61.4
Synonymous OE?1.23
01.21.6
LoF obs/exp: 16 / 18.5Missense obs/exp: 300 / 265.2Syn Z: -1.76

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CYP2C18 · 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 →