TRIM50

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Tripartite motif-containing 50
Identifiers
Symbol TRIM50
Alt. symbols TRIM50A; FLJ32804; MGC138357; MGC138359
Entrez 135892
HUGO 19017
RefSeq NM_178125
UniProt Q86XT4
Other data
Locus Chr. 7 q11.23

Tripartite motif-containing 50, also known as TRIM50, is a human gene.[1] TRIM50 encodes an E3 ubiquitin ligase.[2] 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[edit]

  1. ^ "Entrez Gene: TRIM50 tripartite motif-containing 50". 
  2. ^ Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A (2008). "Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase". European Journal of Human Genetics 16 (9): 1038–49. doi:10.1038/ejhg.2008.68. PMC 2680067. PMID 18398435.