- TRIM50
protein
Name = Tripartite motif-containing 50
caption =
width =
HGNCid = 19017
Symbol = TRIM50
AltSymbols = TRIM50A; FLJ32804; MGC138357; MGC138359
EntrezGene = 135892
OMIM =
RefSeq = NM_178125
UniProt = Q86XT4
PDB =
ECnumber =
Chromosome = 7
Arm = q
Band = 11.23
LocusSupplementaryData =Tripartite motif-containing 50, also known as TRIM50, is a human
gene .cite web | title = Entrez Gene: TRIM50 tripartite motif-containing 50| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=135892| accessdate = ] TRIM50 encodes an E3ubiquitin ligase.cite journal | author=Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A |title=Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase |journal=Eur J Hum Genet. |volume= |issue= |pages= |year=2008 |pmid=18398435 |doi=10.1038/ejhg.2008.68 ] The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The gene is located at 7q11.23, near two homologous genes,TRIM73 andTRIM74 . TRIM50 is deleted inWilliams syndrome , a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.References
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