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MGP003120

UniProt Annotations

Entry Information
Gene Nametransforming growth factor, beta 3
Protein EntryTGFB3_HUMAN
UniProt IDP10600
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10600-1; Sequence=Displayed; Name=2; IsoId=P10600-2; Sequence=VSP_056285; Note=No experimental confirmation available.;
DiseaseArrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) [MIM:107970]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:15639475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseRienhoff syndrome (RNHF) [MIM:615582]: A congenital syndrome characterized by abnormal development of several mesenchymal-derived tissues, including muscle and craniopalatofacial structures, accompanied by low muscle mass, growth retardation, distal arthrogryposis. Additional clinical features include arachnodactyly, pectus excavatum, pes planus, and hyperextensible large joints, as well as hypertelorism and bifid uvula. There is no evidence of vascular disease. {ECO:0000269|PubMed:23824657}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in embryogenesis and cell differentiation.
InteractionP37173:TGFBR2; NbExp=8; IntAct=EBI-1033020, EBI-296151;
PtmThe precursor is cleaved into mature TGF-beta-3 and LAP, which remains non-covalently linked to mature TGF-beta-3 rendering it inactive. {ECO:0000250}.
Sequence CautionSequence=CAA33024.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the TGF-beta family. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitHomodimer; disulfide-linked. Interacts with ASPN. {ECO:0000269|PubMed:17827158}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb3/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tgfb3/";
Web ResourceName=Wikipedia; Note=TGF beta-3 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_3";
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