BUD31 (Protein G10 homolog, EDG-2) is a 144 amino acid protein encoded by the human gene BUD31. BUD31 is a nuclear protein that belongs to the BUD31 (G10) family. BUD31 is found on chromosome 7 which is about 158 milllion bases long, encodes over 1,000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to osteogenesis imperfecta, Pendred syndrome, lissencephaly, citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the long (q) arm of human chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Immunogen Information
Immunogen
Full length fusion protein
Swissprot
P41223
Synonyms
Bud31BUD31 homolog (S. cerevisiae)BUD31Cwc14EDG 2EDG2fSAP17Functional spliceosome associated protein 17G10G10 maternal transcript homologMaternal G10 transcriptProtein BUD31 homologProtein EDG-2Protein G10 homologYCR063W