MMP27

Chr 11

matrix metallopeptidase 27

Also known as: MMP-27

NCBI Gene: 64066 ENSG00000137675 UniProt: Q9H306 OMIM: 618101

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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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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 MMP27?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

751 rare PASS variants

Rare truncating (LoF)

1 in 520

111 rare PASS variants

Rare synonymous (reference)

1 in 190

246 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MMP27. 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 110	1 in 820
South Asian	~43k	1 in 82	1 in 1,300
Remaining (unassigned)	~30k	1 in 59	1 in 190
European (Finnish)	~27k	1 in 260	1 in 5,300
Admixed American	~22k	1 in 64	1 in 580
African / African American	~21k	1 in 68	1 in 560
East Asian	~20k	1 in 79	1 in 1,200
Ashkenazi Jewish	~13k	1 in 480	1 in 870
Middle Eastern	~2,884	1 in 90	1 in 360

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.