LTBP4 in Health and Disease

Genes

Zsolt Urban¹  Chi-Ting Su² 

[1] Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA;Department of Internal Medicine, Renal Division, National Taiwan University Hospital Yunlin Branch, Douliu 640, Taiwan;

关键词: LTBP4;    TGFβ;    elastogenesis;    medicine;   

DOI  :  10.3390/genes12060795

来源: DOAJ

【 摘 要 】

Latent transforming growth factor β (TGFβ)-binding protein (LTBP) 4, a member of the LTBP family, shows structural homology with fibrillins. Both these protein types are characterized by calcium-binding epidermal growth factor-like repeats interspersed with 8-cysteine domains. Based on its domain composition and distribution, LTBP4 is thought to adopt an extended structure, facilitating the linear deposition of tropoelastin onto microfibrils. In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. LTBP4 is an essential regulator of TGFβ signaling and is related to development, immunity, injury repair, and diseases, playing a central role in regulating inflammation, fibrosis, and cancer progression. In this review, we focus on medical disorders or diseases that may be manipulated by LTBP4 in order to enhance the understanding of this protein.

【 授权许可】

Unknown