Literature summary for 3.4.24.7 extracted from

Almaani, N.; Liu, L.; Harrison, N.; Tanaka, A.; Lai-Cheong, J.; Mellerio, J.E.; McGrath, J.A.
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter (2009), Acta Derm. Venereol., 89, 6-11.

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Protein Variants

Protein Variants	Comment	Organism
additional information	identification of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter, 1G or 2G at nucleotide -1607, in individuals with epidermolysis bullosa pruriginosa compared with non-itchy dominant dystrophic epidermolysis bullosa, recessive dystrophic epidermolysis bullosa and healthy controls, overview. Genetic variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P03956	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skin	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
matrix metalloproteinase-1	-	Homo sapiens
MMP-1	-	Homo sapiens

General Information

General Information	Comment	Organism
additional information	genetic variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype in epidermolysis bullosa	Homo sapiens

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Release 2023.1 (January 2023)