ZMPSTE24
Zinc Metallopeptidase STE24
Gene Information Card
| Symbol | ZMPSTE24 |
|---|---|
| Full Name | Zinc Metallopeptidase STE24 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 10269 ncbi.nlm.nih.gov/gene/10269 |
| Ensembl ID | ENSG00000084073 |
| UniProt ID | O75844 |
| OMIM ID | 606480 |
| HGNC ID | 12877 |
| Aliases | FACE1, STE24, PRO1 |
Description
ZMPSTE24 encodes a zinc metalloproteinase that processes prelamin A to mature lamin A by cleaving the C-terminal farnesylated tail. This enzyme is essential for nuclear lamina integrity. Loss-of-function mutations cause accumulation of farnesylated prelamin A, leading to nuclear envelope abnormalities and progeroid disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mandibuloacral dysplasia with type B lipodystrophy (MADB) | Loss of ZMPSTE24 function leads to prelamin A accumulation, disrupting nuclear structure and causing lipodystrophy and skeletal abnormalities. | OMIM #608612 |
| Restrictive dermopathy (RD) | Complete loss of ZMPSTE24 activity results in severe prelamin A accumulation, causing neonatal lethal restrictive dermopathy. | OMIM #275210 |
| Atypical Werner syndrome | Partial deficiency in ZMPSTE24 can cause premature aging features similar to Werner syndrome. | ClinVar, OMIM #277700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Liver | 4.1 | Low |
| Skeletal muscle | 7.8 | Medium |
| Skin | 5.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.1 | High expression |
| HEK 293 | 7.4 | Medium expression |
| HepG2 | 5.6 | Medium expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1085dupT (p.Leu362Phefs*19) | Frameshift | Rare in general population; common in MADB | Loss of function |
| c.794A>G (p.Tyr265Cys) | Missense | Rare | Loss of function |
| c.1333C>T (p.Arg445*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ZMPSTE24 mutations are loss-of-function, leading to prelamin A accumulation and progeroid phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion binding | • metallopeptidase activity |
| • protein processing | • nuclear envelope organization |
| • prelamin A processing |
Pathways
• Lamin A processing and maturation
• Nuclear envelope breakdown and reassembly
Protein Summary
ZMPSTE24 is a 475-amino acid zinc metalloprotease localized to the inner nuclear membrane. It catalyzes the second cleavage step in prelamin A maturation, removing the farnesylated C-terminal peptide. This enzyme is critical for maintaining nuclear shape and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZMPSTE24 Knockout HEK293 Cell Line | EDJ-KQ6983 | Human | 10269 | Details Get a Quote |
| ZMPSTE24 Knockout A-549 Cell Line | EDJ-KQ31688 | Human | 10269 | Details Get a Quote |
| ZMPSTE24 Knockout HCT 116 Cell Line | EDJ-KQ31689 | Human | 10269 | Details Get a Quote |
| ZMPSTE24 Knockout HeLa Cell Line | EDJ-KQ31690 | Human | 10269 | Details Get a Quote |
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