Recombinant Human Latent-transforming growth factor beta-binding protein 4 (LTBP4), partial

1. DMD gene mutations involving the hinge 3 region, actin-binding domain, and exons 45-49, as well as the LTBP4 IAAM haplotype, were not associated with age of left ventricular dysfunction onset inDuchenne muscular dystrophy. PMID: 29766838
2. High LTBP4 expression is associated with recurrence in glioblastoma. PMID: 27270107
3. Studied the potential role of LTBP-4 in scleroderma through clinical, in vivo and in vitro studies. Results suggest that LTBP-4 protein level is increased in plasma and skin tissue of scleroderma patients; found LTBP-4 to be a potential biomarker to differentiate systemic scleroderma (SSc) from localized scleroderma (LSc) patients. PMID: 28263294
4. The LTBP4 VTTT allele is associated with increased risk of dilated cardiomyopathy in European Americans. LTBP4 protein with the IAAM residues bound more latent TGFbeta compared to the LTBP4 VTTT protein. PMID: 26918958
5. Our results show that LTBP4 interacts with TGFBR2 and stabilizes TGFbeta receptors by preventing their endocytosis and lysosomal degradation in a ligand-dependent and receptor kinase activity-dependent manner. PMID: 25882708
6. We show that corticosteroid treatment and the IAAM haplotype of the LTBP4 gene are significantly associated with prolonged ambulation in patients with Duchenne muscular dystrophy PMID: 25476005
7. In the mdx mouse model of Duchenne muscular dystrophy, the human LTBP4 transgene exacerbated muscular dystrophy symptoms and resulted in weaker muscles with an increased inflammatory infiltrate. PMID: 25338755
8. In Caucasians with Duchenne muscular dystrophy and LTBP4 genotype there was a protective effect on age at loss of ambulation. PMID: 25641372
9. It recruits elastin to microfibrils via fibulin-5. PMID: 25675815
10. LTBP4 haplotype influences age at loss of ambulation, and should be considered in the management of Duchenne muscular dystrophy patients. PMID: 23440719
11. Latent transforming growth factor beta-binding protein 4 is downregulated in esophageal cancer via promoter methylation. PMID: 23741501
12. Data indicate mutations of FBLN4, FBLN5, and LTBP4 in 12 probands presenting with type 1 recessive cutis laxa. PMID: 22829427
13. the G1 and G3 domains of versican were upregulated and LTBP-4 was downregulated in breast cancer stroma PMID: 21505857
14. The lack of LTBP4-mediated targeting in malignant mammary tumor tissues may lead to a possible modification of TGF-ss1 and BMP bioavailability and function. PMID: 21468687
15. Meta-analysis of abdominal aortic aneurysm size and growth rates demonstrated a significant association with the LTBP4 21011A>T genotype (a 2% decrease in AAA diameter, or a 0.53 mm/year reduction in AAA growth rate, per T allele [p=0.03, p=0.01]). PMID: 19897194
16. These data suggest that LTBP-4 functions are modified by tissue-specific expression of the two N-terminally distinct variants, which in addition exhibit significant differences in cellular processing and targeting. PMID: 20175115
17. Extracellular matrix is an important site of deposition for LTBP-3 and LTBP-4. PMID: 16157329
18. Our findings suggest that variations in or near the HPN and LTBP4 genes do not play a role in the susceptibility to IA in the Dutch population. PMID: 18487557
19. Novel functions for LTBP-4 as an adhesion molecule. PMID: 18585707
20. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. PMID: 19836010

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HGNC: 6717

OMIM: 310200

KEGG: hsa:8425

STRING: 9606.ENSP00000311905

UniGene: Hs.466766