MMP21

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 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]

Full Name

matrix metallopeptidase 21

Function

Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway (PubMed:26429889, PubMed:26437028).

Cleaves alpha-1-antitrypsin (PubMed:12617721).

Biological Process

Collagen catabolic process Source: GO_Central
Coronary vasculature development Source: Ensembl
Determination of heart left/right asymmetry Source: UniProtKB
Determination of left/right symmetry Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Hematopoietic progenitor cell differentiation Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Heterotaxy, visceral, 7, autosomal (HTX7):
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive.

PTM

The precursor is cleaved by a furin endopeptidase.