Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
Genome Res
; 5(5): 483-7, 1995 Dec.
Article
em En
| MEDLINE
| ID: mdl-8808469
ABSTRACT
The tissue inhibitors of metalloproteinases (TIMPs) play a crucial role in the physiological turnover of the extracellular matrix (ECM) by tightly regulating matrix metalloproteinase (MMP) activities. Disturbances in the TIMP/MMP system have been implicated in many disease processes where loss of ECM integrity is a principal feature. More recently, we have shown that mutations in TIMP3 cause the autosomal dominant disorder Sorsby's fundus dystrophy (SFD). This is a macular degeneration disorder with characteristic ECM irregularities in Bruch's membrane. To further facilitate mutational analysis and to provide a basis for functional studies, we now report the genomic organization of the human TIMP3 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Inibidores de Proteases
/
Metaloendopeptidases
/
Proteínas
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Genome Res
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
1995
Tipo de documento:
Article