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Overview
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Gene Accession: BC029264
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Background
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.
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