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LTBP4 and Autosomal Recessive Cutis Laxa Type IC 

LTBP4 and Autosomal Recessive Cutis Laxa Type IC
Chapter:
LTBP4 and Autosomal Recessive Cutis Laxa Type IC
Author(s):

Zsolt Urban

DOI:
10.1093/med/9780199934522.003.0055
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date: 26 May 2020

Urban-Rifkin-Davis syndrome (URDS), also known as autosomal recessive cutis laxa type 1C, is a disorder affecting the development of the skin, the craniofacial and musculoskeletal, respiratory, the cardiovascular, gastrointestinal and genitourinary systems. URDS is caused by recessive loss of function mutations in the gene for latent transforming growth factor beta (TGF-β‎) binding protein 4 (LTBP4). LTBP4 is a multifunctional protein involved in the regulation of the secretion and storage of TGF-β‎ in the extracellular matrix, in its release in response to developmental, physiological and pathological stimuli and in the assembly of the extracellular matrix. Loss of LTBP4 activity in URDS results in abnormally elevated TGF-β‎ activity and disorganized elastic fibers characterized by a failure of elastin to be properly integrated with fibrillin microfibrils. Genetic and biochemical evidence suggests that TGF-β‎ regulation and elastic fiber organization are separable functions of LTBP4.

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