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FLASH GENE

Symbol

MMP23A

contributors: - updated : 04-05-2004

HGNC name	matrix metalloproteinase 23A
HGNC id	7170

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL1P36 chromosome 1p subtelomeric deletion syndrome DUP1P36 chromosome 1p subtelomeric duplication
Location	1p36.3      Physical location : 1.568.158 - 1.633.247
Synonym symbol(s)	MIFR,MMP21,MIFR-1

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

N

status

confirmed

Map

see TSG1A

RNA

TRANSCRIPTS	type	messenger

text	with three alternatively spliced isoforms A,B,C (Gurujaran)

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary         male system testis         male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast

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 furin recognition motif
	a catalytic domain containing the zinc binding site
	a cysteine-rich domain
	a Ig-like motif
	a putative transmembrane segment and a short cytoplasmic tail

conjugated

MetalloP

HOMOLOGY

intraspecies

paralog to MMP23B

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 in del1p36 and dup1p36 syndromes
Marker
Therapy target

ANIMAL & CELL MODELS