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FLASH GENE
Symbol MMP23B contributors: - updated : 04-05-2004
HGNC name matrix metalloproteinase 23B
HGNC id 7171
Corresponding disease
DEL1P36 chromosome 1p subtelomeric deletion syndrome
DUP1P36 chromosome 1p subtelomeric duplication
Location 1p36.3      Physical location : 1.567.559 - 1.570.029
Synonym symbol(s) MMP22
DNA
TYPE functioning gene
STRUCTURE 1.00 kb     7 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map see TSG1A
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemovary   
 male systemtestis   
 male systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal prosequence lacking the so-called cysteine switch needed for autocatalytic activation
  • a catalytic domain containing the zinc binding site
  • a cysteine-rich domain
  • a Ig-like motif
  • a putative transmembrane segment
  • a short cytoplasmic tail
  • conjugated MetalloP
    HOMOLOGY
    intraspecies homolog to MMP23A
    Homologene
    FAMILY MMP family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    text cleaved in the Golgi and released as an active enzyme into the extracellular space
    basic FUNCTION
  • regulator in matrix remodeling
  • may be playing a role in enchondral bone formation and in regulation of cranial suture closure
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein binding TIMPs in a 1:1 stoechiometry
    cell & other
    REGULATION
    activated by furin (intracellularly) and proteinases
    inhibited by TIMPs and TFPI2
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1P36 , DUP1P36
    Susceptibility
    Variant & Polymorphism
    Candidate gene for cranial suture closure
    Marker
    Therapy target
    ANIMAL & CELL MODELS