LTBP4

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]

Description

Latent transforming growth factor beta binding protein 4

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (40592883 - 40629818)

Ensembl ID

ENSG00000090006  (ver. 103.38)

Orthologs

Mouse Ltbp4: ENSMUSG00000040488

UniProt

Q8N2S1

neXtProt

NX_Q8N2S1

Human splice variants
Mouse splice variants

Protein structure