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LTBP2 information


LTBP2
Identifiers
AliasesLTBP2, C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3, latent transforming growth factor beta binding protein 2
External IDsOMIM: 602091 MGI: 99502 HomoloGene: 369 GeneCards: LTBP2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000428

NM_013589
NM_001370743

RefSeq (protein)

NP_000419

NP_038617
NP_001357672

Location (UCSC)Chr 14: 74.5 – 74.61 MbChr 12: 84.83 – 84.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Latent-transforming growth factor beta-binding protein 2 is a protein that in humans is encoded by the LTBP2 gene.[5][6]

The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins.

It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119681 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002020 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Moren A, Olofsson A, Stenman G, Sahlin P, Kanzaki T, Claesson-Welsh L, ten Dijke P, Miyazono K, Heldin CH (Jan 1995). "Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein". J Biol Chem. 269 (51): 32469–78. doi:10.1016/S0021-9258(18)31659-4. PMID 7798248.
  6. ^ a b "Entrez Gene: LTBP2 latent transforming growth factor beta binding protein 2".

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LTBP2

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primary congenital glaucoma, which is associated with mutations in CYP1B1 or LTBP2. They are inherited in an autosomal recessive fashion. Axenfeld-Rieger syndrome...

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form the usual oval shape. It is a result of a homozygous mutation to the LTBP2 gene. Ectopia lentis "Spherophakia". University of Arizona. Retrieved 2012-08-20...

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"Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2)" (PDF). Mamm Genome. 6 (1): 42–5. doi:10.1007/BF00350892. hdl:2027.42/47013...

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