Gene: RNF123
Alternate names for this Gene: FP1477|KPC1
Gene Summary: The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: ring finger protein 123
Type of Gene: protein-coding
Gene: GMPPB
Alternate names for this Gene: LGMDR19|MDDGA14|MDDGB14|MDDGC14
Gene Summary: This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: GDP-mannose pyrophosphorylase B
Type of Gene: protein-coding