MMP21 Chromosome 10
Matrix metallopeptidase 21
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What This Gene Does
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]
Gene Info
Gene Group
M10 matrix metallopeptidases
Locus Type
gene with protein product
Location
10q26.2
Ensembl
ENSG00000154485
Associated Conditions (6)
Heterotaxy
visceral
7
autosomal
MMP21-related disorder
Visceral heterotaxy
Key Variants
RS912256328
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 7
Health Risk
RS1251807420
Likely pathogenic
Health Risk
RS1312300020
Likely pathogenic
Heterotaxy, visceral, 7
Health Risk
RS145789868
Likely pathogenic
Heterotaxy, visceral, 7
Health Risk
RS1795441247
Likely pathogenic
Heterotaxy, visceral, 7
Health Risk
RS2493740568
Likely pathogenic
MMP21-related disorder, MMP21-related disorder
Health Risk
RS2493742377
Likely pathogenic
Heterotaxy, visceral, 7
Health Risk
RS2493743195
Likely pathogenic
MMP21-related disorder, MMP21-related disorder
Health Risk
RS948481222
Likely pathogenic
Health Risk
RS1384239050
Pathogenic
Health Risk
RS1432707846
Pathogenic
Heterotaxy, visceral, 7
Health Risk
RS1434829861
Pathogenic
Heterotaxy, visceral, 7
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS912256328 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 7 |
| RS1251807420 | Health Risk | Likely pathogenic | — |
| RS1312300020 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 7 |
| RS145789868 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 7 |
| RS1795441247 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 7 |
| RS2493740568 | Health Risk | Likely pathogenic | MMP21-related disorder, MMP21-related disorder |
| RS2493742377 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 7 |
| RS2493743195 | Health Risk | Likely pathogenic | MMP21-related disorder, MMP21-related disorder |
| RS948481222 | Health Risk | Likely pathogenic | — |
| RS1384239050 | Health Risk | Pathogenic | — |
| RS1432707846 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS1434829861 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS1487834487 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS1850488424 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS747668147 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS773125891 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS777088158 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS781127723 | Health Risk | Pathogenic | Heterotaxy, visceral, 7 |
| RS137955225 | Health Risk | Pathogenic/Likely pathogenic | Visceral heterotaxy, Heterotaxy, visceral |
| RS145119918 | Health Risk | Pathogenic/Likely pathogenic | Visceral heterotaxy, Heterotaxy, visceral |
| RS886041273 | Health Risk | Pathogenic/Likely pathogenic | Heterotaxy, visceral, 7 |