TRIM50
Encyclopedia
Tripartite motif-containing 50, also known as TRIM50, is a human gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

. TRIM50 encodes an E3 ubiquitin
Ubiquitin
Ubiquitin is a small regulatory protein that has been found in almost all tissues of eukaryotic organisms. Among other functions, it directs protein recycling.Ubiquitin can be attached to proteins and label them for destruction...

 ligase. The protein encoded by this gene is a member of the tripartite motif (TRIM) family
Tripartite motif family
-Function:Many TRIM proteins are induced by interferons, which are important component of resistance to pathogens and several TRIM proteins are known to be required for the restriction of infection by lentiviruses...

, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins
RING finger domain
In molecular biology, a RING finger domain is a protein structural domain of zinc finger type which contains a Cys3HisCys4 amino acid motif which binds two zinc cations. This protein domain contains from 40 to 60 amino acids...

. The gene is located at 7q11.23, near two homologous genes, TRIM73 and TRIM74. TRIM50 is deleted in Williams syndrome
Williams syndrome
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...

, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.
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