Basic Information

Symbol
ZMPSTE24
RNA class
mRNA
Alias
Zinc Metallopeptidase STE24 FACE-1 STE24 CAAX Prenyl Protease 1 Homolog Ste24p HGPS PRO1 Farnesylated Proteins-Converting Enzyme 1 Prenyl Protein-Specific Endoprotease 1 Zinc Metalloproteinase Ste24 Homolog FACE1 Zinc Metallopeptidase STE24 Homolog (S. Cerevisiae) Zinc Metalloproteinase (STE24 Homolog, Yeast) Zinc Metallopeptidase (STE24 Homolog, Yeast) Hutchinson-Gilford Progeria Syndrome Zinc Metallopeptidase STE24 Homolog EC 3.4.24.84 RSDM1
Location (GRCh38)
1:40258041-40294180
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005857.5
Sequence length
2975.0 nt
GC content
0.3677

Transcripts

ID Sequence Length GC content
NM_005857.5 NCBI
GGUGCACGCUGAAGGAGCCGGCGGAACCGGGUGGCCAUGGGGAUGUGGG… 2975 nt 0.3677
Summary

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]

Forensic Context

No relevant information is available at the moment.