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Protein Coding Gene : Ltbp1 latent transforming growth factor beta binding protein 1
Primary Identifier  MGI:109151 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  268977
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to enable microfibril binding activity; molecular adaptor activity; and transforming growth factor beta binding activity. Acts upstream of or within aorta development; coronary vasculature development; and ventricular septum development. Located in microfibril. Is expressed in several structures, including embryo mesenchyme; forebrain; genitourinary system; heart; and integumental system. Human ortholog(s) of this gene implicated in cutis laxa. Orthologous to human LTBP1 (latent transforming growth factor beta binding protein 1).
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]
  • synonyms:
  • MGI:1924572,
  • MGD-MRK-38195,
  • latent transforming growth factor beta binding protein 1,
  • Ltbp1L,
  • RIKEN cDNA 9430031G15 gene,
  • MGI:5316769,
  • b2b1000Clo,
  • 9430031G15Rik,
  • Ltbp1,
  • Mutant line 1000,
  • LTBP-1
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