RNF148 (RING finger protein 148) is a 305 amino acid single-pass membrane protein that contains one PA (protease associated) domain and a single RING-type zinc finger. RNF148 is encoded by a gene that maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 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 q arm of 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.
Immunogen Information
Immunogen
Fusion protein of human RNF148
Swissprot
Q8N7C7
Synonyms
Goliath related E3 ubiquitin ligase 3 likeRING finger protein 148RN148RNF148