ZMPSTE24 Chromosome 1
Zinc metallopeptidase STE24
Upload your DNA to see your personal genotypes for variants in ZMPSTE24.
What This Gene Does
This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
M48 metallopeptidase family
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000084073
Associated Conditions (7)
Mandibuloacral dysplasia with type B lipodystrophy
Lethal tight skin contracture syndrome
Cervical cancer
Familial cancer of breast
ZMPSTE24-related disorder
Restrictive dermopathy 1
Autosomal recessive ZMPSTE24-related disorders
Key Variants
RS116771294
Conflicting classifications of pathogenicity
Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy
Health Risk
RS138014589
Conflicting classifications of pathogenicity
Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
Health Risk
RS141386841
Conflicting classifications of pathogenicity
Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
Health Risk
RS150740479
Conflicting classifications of pathogenicity
Cervical cancer, Familial cancer of breast, Cervical cancer
Health Risk
RS370174601
Conflicting classifications of pathogenicity
Health Risk
RS41268053
Conflicting classifications of pathogenicity
Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder
Health Risk
RS747563189
Conflicting classifications of pathogenicity
Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder, Mandibuloacral dysplasia with type B lipodystrophy
Health Risk
RS750229142
Conflicting classifications of pathogenicity
Health Risk
RS770003597
Conflicting classifications of pathogenicity
Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
Health Risk
RS1569671504
Likely pathogenic
Health Risk
RS2124593402
Likely pathogenic
Health Risk
RS2522438796
Likely pathogenic
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116771294 | Health Risk | Conflicting classifications of pathogenicity | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS138014589 | Health Risk | Conflicting classifications of pathogenicity | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome |
| RS141386841 | Health Risk | Conflicting classifications of pathogenicity | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy |
| RS150740479 | Health Risk | Conflicting classifications of pathogenicity | Cervical cancer, Familial cancer of breast, Cervical cancer |
| RS370174601 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41268053 | Health Risk | Conflicting classifications of pathogenicity | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder |
| RS747563189 | Health Risk | Conflicting classifications of pathogenicity | Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder, Mandibuloacral dysplasia with type B lipodystrophy |
| RS750229142 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770003597 | Health Risk | Conflicting classifications of pathogenicity | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy |
| RS1569671504 | Health Risk | Likely pathogenic | — |
| RS2124593402 | Health Risk | Likely pathogenic | — |
| RS2522438796 | Health Risk | Likely pathogenic | — |
| RS121908093 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS121908094 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS121908095 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS137854889 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, ZMPSTE24-related disorder |
| RS1431637197 | Health Risk | Pathogenic | — |
| RS1569668526 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS2124002050 | Health Risk | Pathogenic | — |
| RS2522325948 | Health Risk | Pathogenic | — |
| RS2522367272 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS2522418687 | Health Risk | Pathogenic | Restrictive dermopathy 1, Restrictive dermopathy 1 |
| RS267607181 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875360 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875361 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875367 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875369 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS281875371 | Health Risk | Pathogenic | — |
| RS281875372 | Health Risk | Pathogenic | — |
| RS281875373 | Health Risk | Pathogenic | — |
| RS281875375 | Health Risk | Pathogenic | — |
| RS281875376 | Health Risk | Pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS312262685 | Health Risk | Pathogenic | — |
| RS312262686 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome |
| RS61751009 | Health Risk | Pathogenic | — |
| RS771057161 | Health Risk | Pathogenic | — |
| RS786205123 | Health Risk | Pathogenic | Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS886044057 | Health Risk | Pathogenic | — |
| RS1217416700 | Health Risk | Pathogenic/Likely pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder, Mandibuloacral dysplasia with type B lipodystrophy |
| RS1402953071 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281875370 | Health Risk | Pathogenic/Likely pathogenic | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy |