3.4.24.B6: matrix metalloproteinase-20
This is an abbreviated version!
For detailed information about matrix metalloproteinase-20, go to the full flat file.
Word Map on EC 3.4.24.B6
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3.4.24.B6
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amelogenins
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amelogenesis
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tooth
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klk4
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dentin
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imperfecta
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odontoblasts
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ameloblastin
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enamelin
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amelx
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incisor
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sialophosphoprotein
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hypomineralized
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odontogenic
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apatite
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maturation-stage
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fluorosis
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tooth-specific
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fam83h
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kallikrein-4
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kallikrein-related
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hypomaturation
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secretory-stage
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tuftelin
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dentinogenesis
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odontogenesis
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ameloblast-like
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dentin-pulp
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decussating
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dentino-enamel
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tyrosine-rich
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crystallite
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pharmacology
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medicine
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degradation
- 3.4.24.B6
- amelogenins
-
amelogenesis
- tooth
- klk4
- dentin
- imperfecta
- odontoblasts
- ameloblastin
- enamelin
-
amelx
- incisor
- sialophosphoprotein
-
hypomineralized
-
odontogenic
-
apatite
-
maturation-stage
- fluorosis
-
tooth-specific
-
fam83h
- kallikrein-4
-
kallikrein-related
-
hypomaturation
-
secretory-stage
-
tuftelin
-
dentinogenesis
-
odontogenesis
-
ameloblast-like
-
dentin-pulp
-
decussating
-
dentino-enamel
-
tyrosine-rich
-
crystallite
- pharmacology
- medicine
- degradation
Reaction
proteolytic cleavage of ameloblastin =
Synonyms
enamel metalloproteinase, enamel protease, enamelysin, M10.019, matrix metalloproteinase 20, MMP-20, MMP20
ECTree
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Engineering
Engineering on EC 3.4.24.B6 - matrix metalloproteinase-20
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E227A
E352K
mutation identified in a family with hypomaturation-type enamel defect. Mutant protein is expressed at a normal level but secreted only minimally with proteolytic function. The homozygous change of glutamic acid to basic lysine in the hemopexin domain is predicted to result in a conformational change in MMP20
H226Q
W34X
the nonsense mutation results in no functional MMP20 during tooth formation
Y180*/T130I
mutation identified in patients with hypomaturation amelogenesis imperfecta. Affected persons exhibit slight yellowish discoloration with reduced transparency
additional information
the missense mutation does not interfere with MMP20 expression, but completely abolish MMP-20 proteolytic activity. The enamel phenotype is an autosomal-recessive hypomaturation type of amelogenesis imperfecta
H226Q
mutation identified in patients with hypomaturation amelogenesis imperfecta. Affected persons show hypomaturation AI with dark brown discoloration. No functional MMP20 protein is found
identification of MMP20 mutations involved in amelogenesis imperfecta, a heterogeneous group of inherited enamel malformations
additional information
identification of single nucleotide polymorphisms rs2245803 and rs1711437 in MMP20
additional information
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identification of single nucleotide polymorphisms rs2245803 and rs1711437 in MMP20
additional information
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enamel from MMP-20 null mice is ca. 37% softer, contains 53% less bulk mineral and has 7-16% higher levels of water and protein per unit weight than wild type enamel
additional information
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enamel from MMP-20 null mice is ca. 37% softer, contains 53% less bulk mineral and has 7-16% higher levels of water and protein per unit weight than wild type enamel
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