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Aliases for ZMPSTE24 Gene

Aliases for ZMPSTE24 Gene

  • Zinc Metallopeptidase STE24 2 3 5
  • Farnesylated Proteins-Converting Enzyme 1 3 4
  • Prenyl Protein-Specific Endoprotease 1 3 4
  • Zinc Metalloproteinase Ste24 Homolog 3 4
  • CAAX Prenyl Protease 1 Homolog 2 3
  • FACE-1 3 4
  • FACE1 3 4
  • STE24 3 4
  • Zinc Metallopeptidase STE24 Homolog (S. Cerevisiae) 2
  • Zinc Metalloproteinase (STE24 Homolog, Yeast) 2
  • Zinc Metallopeptidase (STE24 Homolog, Yeast) 2
  • Hutchinson-Gilford Progeria Syndrome 2
  • Zinc Metallopeptidase STE24 Homolog 3
  • EC 3.4.24.84 4
  • Ste24p 3
  • HGPS 3
  • PRO1 3

External Ids for ZMPSTE24 Gene

Previous GeneCards Identifiers for ZMPSTE24 Gene

  • GC01P040758
  • GC01P039727
  • GC01P040187
  • GC01P040137
  • GC01P040392
  • GC01P040496
  • GC01P040723
  • GC01P038842

Summaries for ZMPSTE24 Gene

Entrez Gene Summary for ZMPSTE24 Gene

  • 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]

GeneCards Summary for ZMPSTE24 Gene

ZMPSTE24 (Zinc Metallopeptidase STE24) is a Protein Coding gene. Diseases associated with ZMPSTE24 include Mandibuloacral Dysplasia With Type B Lipodystrophy and Restrictive Dermopathy, Lethal. Among its related pathways are Terpenoid backbone biosynthesis and Adipogenesis. GO annotations related to this gene include metalloendopeptidase activity and metalloexopeptidase activity.

UniProtKB/Swiss-Prot for ZMPSTE24 Gene

  • Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZMPSTE24 Gene

Genomics for ZMPSTE24 Gene

Regulatory Elements for ZMPSTE24 Gene

Enhancers for ZMPSTE24 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G039865 1.1 FANTOM5 dbSUPER 22 -392.3 -392302 0.2 HDGF CBX3 HINFP ZNF140 SALL2 CBX5 ZNF366 SMARCA5 ZNF114 ZBTB2 BMP8B ZMPSTE24 CAP1 TRIT1 PPT1 ENSG00000259943 ZFP69 RIMS3 PPIE RLF
GH01G040379 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11 +130.7 130717 19.3 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D SSRP1 SMAP2 RLF ENSG00000231296 ZMPSTE24 LOC105378672 EXO5 CAP1 MFSD2A PPT1 NFYC
GH01G040338 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +81.5 81451 1.8 HDGF PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A ZNF2 ZNF48 TCF12 COL9A2 ENSG00000231296 ZMPSTE24 TMCO2 EXO5 SMAP2 PPT1 RLF RPL21P20
GH01G040372 1.8 FANTOM5 ENCODE dbSUPER 10.6 +117.8 117803 5.9 CREB3L1 AGO1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 SMAP2 PPIEL EXO5 ENSG00000259943 NFYC-AS1 ENSG00000182109 ZFP69 PABPC4 ENSG00000231296 ZMPSTE24
GH01G040063 1.6 Ensembl ENCODE dbSUPER 9.7 -193.4 -193430 3.2 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PPT1 CAP1 ENSG00000259943 PABPC4 ENSG00000260920 ZMPSTE24 ENSG00000231296
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZMPSTE24 on UCSC Golden Path with GeneCards custom track

Promoters for ZMPSTE24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005187 50 2601 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for ZMPSTE24 Gene

Chromosome:
1
Start:
40,258,050 bp from pter
End:
40,294,184 bp from pter
Size:
36,135 bases
Orientation:
Plus strand

Genomic View for ZMPSTE24 Gene

Genes around ZMPSTE24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZMPSTE24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZMPSTE24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZMPSTE24 Gene

Proteins for ZMPSTE24 Gene

  • Protein details for ZMPSTE24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75844-FACE1_HUMAN
    Recommended name:
    CAAX prenyl protease 1 homolog
    Protein Accession:
    O75844
    Secondary Accessions:
    • B3KQI7
    • D3DPU7
    • Q8NDZ8
    • Q9UBQ2

    Protein attributes for ZMPSTE24 Gene

    Size:
    475 amino acids
    Molecular mass:
    54813 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZMPSTE24 Gene

neXtProt entry for ZMPSTE24 Gene

Post-translational modifications for ZMPSTE24 Gene

  • Ubiquitination at isoforms=46, posLast=6666, posLast=251251, and isoforms=437
  • Modification sites at PhosphoSitePlus

Other Protein References for ZMPSTE24 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZMPSTE24 Gene

Domains & Families for ZMPSTE24 Gene

Protein Domains for ZMPSTE24 Gene

Suggested Antigen Peptide Sequences for ZMPSTE24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75844

UniProtKB/Swiss-Prot:

FACE1_HUMAN :
  • The metalloprotease domain is constituted by the two C-terminal nuclear regions.
  • Belongs to the peptidase M48A family.
Domain:
  • The metalloprotease domain is constituted by the two C-terminal nuclear regions.
Family:
  • Belongs to the peptidase M48A family.
genes like me logo Genes that share domains with ZMPSTE24: view

No data available for Gene Families for ZMPSTE24 Gene

Function for ZMPSTE24 Gene

Molecular function for ZMPSTE24 Gene

GENATLAS Biochemistry:
farnesylated protein converting enzyme 1,gluxinein subfamily of metalloproteinase ubiquitously expressed,CAAX prenyl protease S cerevisiae Ste24p homolog,catalyzing the first step of the proteolytic processing of farnesylated proteins,including Ras,also involved in NH2 terminal processing
UniProtKB/Swiss-Prot CatalyticActivity:
The peptide bond hydrolyzed can be designated -C- -A-A-X in which C is an S-isoprenylated cysteine residue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of several amino acids.
UniProtKB/Swiss-Prot Function:
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.

Enzyme Numbers (IUBMB) for ZMPSTE24 Gene

Gene Ontology (GO) - Molecular Function for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA --
GO:0005515 protein binding IPI 28169297
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity TAS 10373325
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with ZMPSTE24: view
genes like me logo Genes that share phenotypes with ZMPSTE24: view

Human Phenotype Ontology for ZMPSTE24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZMPSTE24 Gene

MGI Knock Outs for ZMPSTE24:

Animal Model Products

CRISPR Products

miRNA for ZMPSTE24 Gene

miRTarBase miRNAs that target ZMPSTE24

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ZMPSTE24 Gene

Localization for ZMPSTE24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZMPSTE24 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZMPSTE24 gene
Compartment Confidence
extracellular 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with ZMPSTE24: view

Pathways & Interactions for ZMPSTE24 Gene

genes like me logo Genes that share pathways with ZMPSTE24: view

Pathways by source for ZMPSTE24 Gene

1 BioSystems pathway for ZMPSTE24 Gene
1 KEGG pathway for ZMPSTE24 Gene

Gene Ontology (GO) - Biological Process for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 10373325
GO:0006998 nuclear envelope organization IEA --
GO:0030327 prenylated protein catabolic process IEA --
GO:0071586 CAAX-box protein processing IBA --
genes like me logo Genes that share ontologies with ZMPSTE24: view

No data available for SIGNOR curated interactions for ZMPSTE24 Gene

Drugs & Compounds for ZMPSTE24 Gene

(5) Drugs for ZMPSTE24 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for ZMPSTE24 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZMPSTE24: view

Transcripts for ZMPSTE24 Gene

mRNA/cDNA for ZMPSTE24 Gene

Unigene Clusters for ZMPSTE24 Gene

Zinc metallopeptidase STE24:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZMPSTE24 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5: -

Relevant External Links for ZMPSTE24 Gene

GeneLoc Exon Structure for
ZMPSTE24
ECgene alternative splicing isoforms for
ZMPSTE24

Expression for ZMPSTE24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZMPSTE24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZMPSTE24 Gene

This gene is overexpressed in Nasal epithelium (56.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZMPSTE24 Gene



Protein tissue co-expression partners for ZMPSTE24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZMPSTE24 Gene:

ZMPSTE24

SOURCE GeneReport for Unigene cluster for ZMPSTE24 Gene:

Hs.132642

mRNA Expression by UniProt/SwissProt for ZMPSTE24 Gene:

O75844-FACE1_HUMAN
Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary.

Evidence on tissue expression from TISSUES for ZMPSTE24 Gene

  • Nervous system(4.7)
  • Skin(2.5)
  • Muscle(2.3)
  • Kidney(2.1)
  • Liver(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZMPSTE24 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ZMPSTE24: view

Primer Products

No data available for mRNA differential expression in normal tissues for ZMPSTE24 Gene

Orthologs for ZMPSTE24 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ZMPSTE24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZMPSTE24 34 35
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia ZMPSTE24 34 35
  • 94.16 (n)
dog
(Canis familiaris)
Mammalia ZMPSTE24 34 35
  • 94.07 (n)
rat
(Rattus norvegicus)
Mammalia Zmpste24 34
  • 90.15 (n)
mouse
(Mus musculus)
Mammalia Zmpste24 34 16 35
  • 90.08 (n)
oppossum
(Monodelphis domestica)
Mammalia ZMPSTE24 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZMPSTE24 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZMPSTE24 34 35
  • 80.71 (n)
lizard
(Anolis carolinensis)
Reptilia aca-mir-5401 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zmpste24 34
  • 75.84 (n)
Str.6615 34
zebrafish
(Danio rerio)
Actinopterygii zmpste24 34 35
  • 69.74 (n)
wufi45a02 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004470 34
  • 55.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta ste24a 34 35
  • 54.55 (n)
CG9000 36
  • 49 (a)
ste24b 35
  • 32 (a)
OneToMany
CG30461 36
  • 30 (a)
CG9001 36
  • 30 (a)
CG9002 36
  • 30 (a)
ste24c 35
  • 30 (a)
OneToMany
CG7573 35
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fce-1 34 35
  • 51.71 (n)
C04F12.10 36
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE24 34 35 37
  • 48.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10846g 34
  • 47.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATSTE24 34
  • 53.68 (n)
soybean
(Glycine max)
eudicotyledons Gma.17905 34
rice
(Oryza sativa)
Liliopsida Os02g0680400 34
  • 54.15 (n)
Os.13475 34
barley
(Hordeum vulgare)
Liliopsida Hv.11857 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3H1.05 34
  • 50.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03637 34
  • 50.16 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.646 34
Species where no ortholog for ZMPSTE24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZMPSTE24 Gene

ENSEMBL:
Gene Tree for ZMPSTE24 (if available)
TreeFam:
Gene Tree for ZMPSTE24 (if available)

Paralogs for ZMPSTE24 Gene

No data available for Paralogs for ZMPSTE24 Gene

Variants for ZMPSTE24 Gene

Sequence variations from dbSNP and Humsavar for ZMPSTE24 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908093 Pathogenic, Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] 40,285,988(+) GGCAC(C/T)GGAAG nc-transcript-variant, reference, missense
rs121908095 Pathogenic, Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] 40,272,009(+) CTTTC(C/G/T)TTTGA nc-transcript-variant, reference, missense
rs281875371 untested, Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] 40,281,367(+) CAGCA(A/G)TGCTT nc-transcript-variant, reference, missense
rs121908094 Pathogenic 40,258,392(+) AGCGG(C/T)AGGTG nc-transcript-variant, reference, stop-gained
rs137854889 Pathogenic 40,290,879(+) TTTTT(-/T)ATTTG nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ZMPSTE24 Gene

Variant ID Type Subtype PubMed ID
esv2658928 CNV deletion 23128226
esv3561094 CNV deletion 23714750
esv3561105 CNV deletion 23714750
nsv1126993 CNV deletion 24896259
nsv829660 CNV gain+loss 17160897

Variation tolerance for ZMPSTE24 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZMPSTE24 Gene

Human Gene Mutation Database (HGMD)
ZMPSTE24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZMPSTE24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZMPSTE24 Gene

Disorders for ZMPSTE24 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ZMPSTE24 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mandibuloacral dysplasia with type b lipodystrophy
  • lipodystrophy, type b, associated with mandibuloacral dysplasia
restrictive dermopathy, lethal
  • lethal restrictive dermopathy
hutchinson-gilford progeria
  • hutchinson-gilford progeria syndrome
lethal restrictive dermopathy, zmpste24-related
  • hyperkeratosis-contracture syndrome, zmpste24-related
mandibuloacral dysplasia
  • mandibuloacral dysplasia with type a lipodystrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FACE1_HUMAN
  • Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. {ECO:0000269 PubMed:15317753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. {ECO:0000269 PubMed:12913070, ECO:0000269 PubMed:17152860, ECO:0000269 PubMed:18435794, ECO:0000269 PubMed:20814950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZMPSTE24

Genetic Association Database (GAD)
ZMPSTE24
Human Genome Epidemiology (HuGE) Navigator
ZMPSTE24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZMPSTE24
genes like me logo Genes that share disorders with ZMPSTE24: view

No data available for Genatlas for ZMPSTE24 Gene

Publications for ZMPSTE24 Gene

  1. Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. (PMID: 10373325) Freije J.M.P. … Lopez-Otin C. (Genomics 1999) 2 3 4 22 64
  2. Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. (PMID: 9700155) Tam A. … Michaelis S. (J. Cell Biol. 1998) 2 3 4 22 64
  3. Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. (PMID: 19841875) Fontaine-Bisson B. … Morange P.E. (J. Mol. Med. 2010) 3 22 46 64
  4. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (PMID: 18435794) Miyoshi Y. … Ozono K. (Clin. Genet. 2008) 3 4 22 64
  5. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (PMID: 17152860) Agarwal A.K. … Garg A. (J. Invest. Med. 2006) 3 4 22 64

Products for ZMPSTE24 Gene

Sources for ZMPSTE24 Gene

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