MMP23B

Chr 1

matrix metallopeptidase 23B

Also known as: MIFR, MIFR-1, MMP22

NCBI Gene: 8510ENSG00000189409UniProt: O75900OMIM: 603321

This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.117
Z-score 0.38
OE 0.66 (0.21–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.54Z-score
OE missense 0.77 (0.59–1.03)
35 obs / 45.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.21–1.83)
0≤0.351.4
Missense OE?0.77 (0.59–1.03)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 1 / 1.5Missense obs/exp: 35 / 45.2Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MMP23B · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients