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Protein Coding Gene : Ltbp4 latent transforming growth factor beta binding protein 4
Primary Identifier  MGI:1321395 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  108075
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable transforming growth factor beta binding activity. Involved in elastic fiber assembly. Acts upstream of or within hormone secretion and transforming growth factor beta receptor signaling pathway. Located in microfibril. Is expressed in aorta; blood vessel; ovary; and oviduct. Used to study cutis laxa. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IC. Orthologous to human LTBP4 (latent transforming growth factor beta binding protein 4).
PHENOTYPE: Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer. [provided by MGI curators]
  • synonyms:
  • Ltbp4,
  • 2310046A13Rik,
  • MGI:1916894,
  • latent transforming growth factor beta binding protein 4,
  • RIKEN cDNA 2310046A13 gene
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