Gene Symbol | LTBP4 |
Entrez Gene ID | 8425 |
Full Name | latent transforming growth factor beta binding protein 4 |
Synonyms | ARCL1C,LTBP-4,LTBP4L,LTBP4S |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]. |
Disorder MIM: | |
Disorder Html: | Cutis laxa, autosomal recessive, type IC, 613177 (3) |