MMP21

Chr 10

matrix metallopeptidase 21

Also known as: HTX7, MMP-21

NCBI Gene: 118856 ENSG00000154485 UniProt: O75900

This gene encodes a matrix metalloproteinase that functions as a protease and may regulate potassium channel surface expression by retaining them in the endoplasmic reticulum. Mutations cause visceral heterotaxy-7, a developmental disorder affecting the normal left-right asymmetry of internal organs, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variation.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.20

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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