Zinc Metalloproteinase STE24

Alternative Names

  • ZMPSTE24
  • STE24, S. cerevisiae, Homolog of
  • FACE1
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OMIM Number

606480

NCBI Gene ID

10269

Uniprot ID

O75844

Length

36,103 bases

No. of Exons

11

No. of isoforms

1

Protein Name

CAAX Prenyl Protease 1 Homolog

Molecular Mass

54813 Da

Amino Acid Count

475

Genomic Location

chr1:40,258,077-40,294,179

Gene Map Locus
1p34.2

Description

The nuclear lamina is a meshwork of intermediate filaments that lie beneath the inner nucleus membrane, and functions to provide structural scaffolding for the cell nucleus. It also plays a role in chromatin organization, transcription, and mitosis. The main protein constituents of the nuclear lamina are the lamin proteins, principally Lamins A, C, B1, and B2. The ZMPSTE24 is a zinc metalloproteinase that plays a key role in the post-translational processing of the Lamin A protein. Specifically, this enzyme catalyzes a two-step post-translational endo-proteolytic cleavage of the carboxy terminal residues of farnesylated prelamin A to form mature lamin A.

Mutations in the ZMPSTE24 gene have been implicated in two related disorders; Restrictive Dermopathy, and Mandibuloacral Dysplasia (MAD). Both of these are progeroid disorders, the former a lethal disorder characterized by taut skin in utero leading to fetal akinesia and deformation. MAD is characterized by skeletal abnormalities, such as mandibular and clavicular hypoplasia and acroosteolysis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005857.5:c.627+1G>CUnited Arab EmiratesNC_000001.11:g.40270128G>CPathogenicPathogenicRestrictive Dermopathy, LethalNG_008695.1:g.17068G>C; NM_005857.5:c.627+1G>C312262686140532
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