ZMPSTE24 (zinc metallopeptidase STE24)

2003-05-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
FACE-1,FACE1,HGPS,PRO1,STE24,Ste24p
FUSION GENES

Other Information

Locus ID:

NCBI: 10269
MIM: 606480
HGNC: 12877
Ensembl: ENSG00000084073

Variants:

dbSNP: 10269
ClinVar: 10269
TCGA: ENSG00000084073
COSMIC: ZMPSTE24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084073ENST00000372759O75844

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
158434032005Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
153177532004Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.82
162971892005Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.46
235396032013The structural basis of ZMPSTE24-dependent laminopathies.42
227182002012Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.38
182306152008A potent HIV protease inhibitor, darunavir, does not inhibit ZMPSTE24 or lead to an accumulation of farnesyl-prelamin A in cells.25
217245542011High prevalence of laminopathies among patients with metabolic syndrome.25
270341362016A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.21
194532692009ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders.20

Citation

Dessen P

ZMPSTE24 (zinc metallopeptidase STE24)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42868/zmpste24-(zinc-metallopeptidase-ste24)