Gene: [11q223/MMP1] matrix metalloproteinase 1; collagenase, interstitial (fibroblast); epidermolysis bullosa, dystrophic (Hallopeau-Siemens, recessive; MIM:226600);

GEN

The gene length is 17 kb.

MAP

Pendas-1996 isolated a 1.5-Mb YAC clone on 11q22.3 with 7 MMP genes: cen--MMP8--MMP10--MMP1--MMP3--MMP12--MMP7--MMP13--qter."

FUN

Belongs to metalloproteinases. Catalyzes degradation of extracellular matrix proteins especially collagen type I, II, III. Cleaves preferentially one bond in native collagen. Cleavage of the triple helix of collagen at about three-quarters of the length of the molecule from the N-terminus, at 775-gly-|-ile-776 in the alpha-1(I) chain. Cleaves synthetic substrates and alpha-macroglobulins at bonds where p1' is a hydrophobic residue."

FAG

[1] Collagenase belongs to the family of metalloproteinases, which degrade extracellular matrix proteins, preferentially collagen. This family includes, apart the collagenases, several isoforms of stromelysin and stromelysin-like proteins; for more details on this family, see GEM:11q223/MMP3.
[2] On the family of collagen proteins, see FAM:COLL/00.0.
[3] A gene for collagenase protein inhibitor has been mapped (GEM:0Xp1123/TIMP1)."

REF

PND,PAT,MEB "Anton-Lamprecht I &: Hum Genet, 59, 392-405, 1981a
PND,PAT,MEB "Anton-Lamprecht I &: Lancet, 2, 1077-1079, 1981b
PND,PAT,MEB "Bauer EA &: J Invest Derm, 87, 597-601, 1986
TER,MEB "Bauer EA &: New Engl J Med, 303, 776-781, 1980
FOG,PAT,MEB "Bauer EA, Eisen AZ: J Exp Med, 148, 1378-1387, 1978
FOG,PAT,MEB "Bauer EA: PNAS, 74, 4646-4650, 1977
FOG,POG "Book JA: J Genet Hum, 1, 24-26, 1952
CLO,COD,SEQ,GEN "Brinckerhoff CE &: J Clin Invest, 79, 542-546, 1987
LOC,CYG,PHE "Church &: Coll Relat Res, 3, 115-124, 1983
FUN,EXP,MEB "Clark, Cawston: Biochem J, 263, 201-206, 1989
REV,PAT,FOG "Davison BCC: J Med Genet, 2, 233-242, 1965
FOG,PAT,MEB "Destro &: Arch Ophthal, 105, 1248-1252, 1987
REV,PAT,FOG "Didolkar &: Cancer, 33, 198-202, 1974
LOC,MOL "Gerhard &: CCG, 46, (HGM9), 619, 1987
PEP,SEQ,EVO "Goldberg GI &: JBC, 261, 6600-6605, 1986
NOM "Nagase H &: Matrix, 1, (Suppl.), 421-424, 1992
MAP "Pendas AM &: Genomics, 37, 266-269, 1996
HIS,PHE,PAT,FOG "Robinson MM: Urol Cutan Rev, 50, 545-561, 1946
FUN,EXP,MEB "Sottile &: J Cell Physiol, 138, N2, 281-290, 1989
LOC,MOL,POL,FAG "Spurr NK &: Genomics, 2, 119-127, 1988
FOG,PAT,MEB "Tidman, Eady: Brit J Derm, 111, 379-387, 1984

SWI

SWISSPROT: P03956

KEY

derm, exce, pep

CLA

coding, basic

LOC

11 q22.3

MIM

MIM: 120353

EZN

ENZYME: 3.4.24.7

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