Tripartite motif-containing 50, also known as TRIM50, is a human
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
TRIM50 encodes an E3
ubiquitin
Ubiquitin is a small (8.6 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ''ubiquitously''. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. Fo ...
ligase.
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
Ring may refer to:
* Ring (jewellery), a round band, usually made of metal, worn as ornamental jewelry
* To make a sound with a bell, and the sound made by a bell
:(hence) to initiate a telephone connection
Arts, entertainment and media Film and ...
. The gene is located at 7q11.23, near two homologous genes,
TRIM73 and
TRIM74. TRIM50 is deleted in
Williams syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people ...
, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.
References
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