LTBP4
latent transforming growth factor beta binding protein 4
Normal Function
Health Conditions Related to Genetic Changes
Cutis laxa
At least 20 variants (also known as mutations) in the LTBP4 gene have been identified in people with cutis laxa. LTBP4 gene variants cause a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, which is characterized by loose and sagging skin, a lung disease called emphysema, and abnormalities involving the digestive and urinary systems.
Most of the LTBP4 gene variants involved in cutis laxa change single DNA building blocks. These changes alter the blueprint for making proteins, and the abnormal blueprint is broken down in the cell before LTBP4 protein is made. A shortage of this protein prevents the assembly of elastic fibers, which weakens connective tissue in the skin, lungs, and other organs. These defects in connective tissue underlie the major features of ARCL1C.
More About This Health ConditionRelated Conditions
Cutis laxa
Health Conditions Related to Genetic Changes
At least 20 variants (also known as mutations) in the LTBP4 gene have been identified in people with cutis laxa. LTBP4 gene variants cause a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, which is characterized by loose and sagging skin, a lung disease called emphysema, and abnormalities involving the digestive and urinary systems.
Most of the LTBP4 gene variants involved in cutis laxa change single DNA building blocks. These changes alter the blueprint for making proteins, and the abnormal blueprint is broken down in the cell before LTBP4 protein is made. A shortage of this protein prevents the assembly of elastic fibers, which weakens connective tissue in the skin, lungs, and other organs. These defects in connective tissue underlie the major features of ARCL1C.