TRIM50

{{Short description|Mammalian protein found in Homo sapiens}}

{{infobox protein

| Name = Tripartite motif-containing 50

| caption =

| image =

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| 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 = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=135892}} TRIM50 encodes an E3 ubiquitin ligase.{{cite journal | vauthors=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=European Journal of Human Genetics |volume= 16|issue= 9|pages= 1038–49|year=2008 |pmid=18398435 |doi=10.1038/ejhg.2008.68 | pmc=2680067 }} 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 and TRIM74. TRIM50 is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

References

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