Gene entry
ZMPSTE24
zinc metallopeptidase STE24
- Chromosome
- 1
- Cytoband
- 1p34.2
- Variants (rsID)
- 11
ZMPSTE24 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “zinc metallopeptidase STE24”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs10489432Benignsingle nucleotide variantLethal tight skin contracture syndrome|Mandibuloacral dysplasia with type B lipodystrophy
- rs115173390Benignsingle nucleotide variantLethal tight skin contracture syndrome|Mandibuloacral dysplasia with type B lipodystrophy
- rs75470795Likely benignsingle nucleotide variant
- rs281875375PathogenicDuplication
- rs61751009Pathogenicsingle nucleotide variant
- rs116771294Not classifiedsingle nucleotide variant
- rs926830Not classifiedsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.