MMP12

Chr 11

matrix metallopeptidase 12

Also known as: HME, ME, MME, MMP-12

NCBI Gene: 4321 ENSG00000262406 UniProt: P39900 OMIM: 601046

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

198

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in MMP12?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

579 rare PASS variants

Rare truncating (LoF)

1 in 1,200

104 rare PASS variants

Rare synonymous (reference)

1 in 160

223 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MMP12. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 1,600
South Asian	~43k	1 in 83	1 in 610
Remaining (unassigned)	~30k	1 in 120	1 in 880
European (Finnish)	~27k	1 in 440	1 in 1,400
Admixed American	~22k	1 in 120	1 in 1,300
African / African American	~21k	1 in 91	1 in 1,600
East Asian	~20k	1 in 140	1 in 970
Ashkenazi Jewish	~13k	1 in 570	1 in 1,400
Middle Eastern	~2,884	1 in 130	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.