| Tripartite motif-containing 50 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | TRIM50 | ||||||
| Alt. symbols | TRIM50A; FLJ32804; MGC138357; MGC138359 | ||||||
| NCBI gene | 135892 | ||||||
| HGNC | 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
- ↑ "Entrez Gene: TRIM50 tripartite motif-containing 50".
- ↑ 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.