Ltbp4 gene

LTBP4 is the acronym for latent transforming growth factor beta-binding protein 4, a gene (gene location 19q13.2) that codes for a protein of the same name. The protein is a key regulator of transforming growth factor beta(TGFB1, TGFB2 and TGFB3). It plays a role in elastogenesis. Mutations in this gene lead to an autosomal recessive cutis laxa of type ARCL1C.

1. Bultmann-Mellin I et al (22016) Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice. The Model Mech 9:1367-1374.
2. Ritelli M et al (2019)Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. Mol GenetGenomic Med 7:e00735.
3. Urban Z et al (2009) Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. At J Hum Genet 85:593-605.