LTBP4 gene

latent transforming growth factor beta binding protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM).

From NCBI Gene:

  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

From UniProt:

Urban-Rifkin-Davis syndrome (URDS): A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. [MIM:613177]

Cytogenetic Location: 19q13.1-q13.2, which is the long (q) arm of chromosome 19 between positions 13.1 and 13.2

Molecular Location: base pairs 40,592,888 to 40,629,820 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.1-q13.2, which is the long (q) arm of chromosome 19 between positions 13.1 and 13.2
  • ARCL1C
  • LTBP-4
  • LTBP4L
  • LTBP4S