TGFBI

TGFBI
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1X3B, 2LTB, 2LTC, 2VXP
Dynodwyr
Cyfenwau	TGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced
Dynodwyr allanol	OMIM: 601692 HomoloGene: 37294 GeneCards: TGFBI
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • integrin binding • GO:0001948, GO:0016582 protein binding • collagen binding • extracellular matrix binding • extracellular matrix structural constituent • cell adhesion molecule binding Cydrannau o'r gell • GO:0005578 extracellular matrix • basement membrane • trans-Golgi network • Cellbilen • extracellular exosome • extracellular space • extracellular region • collagen-containing extracellular matrix Prosesau biolegol • negative regulation of cell adhesion • cell population proliferation • chondrocyte differentiation • angiogenesis • response to stimulus • golwg • cell adhesion • extracellular matrix organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7045	n/a
Ensembl	ENSG00000120708	n/a
UniProt	Q15582	n/a
RefSeq (mRNA)	NM_000358	n/a
RefSeq (protein)	NP_000349	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TGFBI yw TGFBI a elwir hefyd yn Transforming growth factor-beta-induced protein ig-h3 a Transforming growth factor beta induced (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 5, band 5q31.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TGFBI.

• CSD
• CDB1
• CDG2
• CSD1
• CSD2
• CSD3
• EBMD
• LCD1
• BIGH3
• CDGG1

Llyfryddiaeth

• "Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ". Ophthalmic Genet. 2016. PMID 27028151.
• "LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp). ". Proteomics. 2016. PMID 26864644.
• "Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. ". Cornea. 2017. PMID 28060069.
• "Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBIgene. ". Br J Ophthalmol. 2017. PMID 27402970.
• "Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI.". J Refract Surg. 2016. PMID 27163623.