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TGFBI

From Wikipedia, the free encyclopedia
TGFBI
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced
External IDsOMIM: 601692; MGI: 99959; HomoloGene: 37294; GeneCards: TGFBI; OMA:TGFBI - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000358

NM_009369

RefSeq (protein)

NP_000349

NP_033395

Location (UCSC)Chr 5: 136.03 – 136.06 MbChr 13: 56.76 – 56.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.[5][6]

Function

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This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion.[5]

Clinical significance

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Mutations of the gene cause several forms of corneal dystrophies.[7][8]

Reis-Bücklers corneal dystrophy. Light microscopy of cornea showing characteristic red stained deposits of mutated TGFBI protein in the superficial corneal stroma. Masson's trichrome stain.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120708Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035493Ensembl, 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. ^ a b "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".
  6. ^ Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935. S2CID 19284412.
  7. ^ Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF (February 1998). "Mutation hot spots in 5q31-linked corneal dystrophies". Am. J. Hum. Genet. 62 (2): 320–4. doi:10.1086/301720. PMC 1376896. PMID 9463327.
  8. ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.