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This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.
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Protein Aliases: ATP-binding cassette 50; ATP-binding cassette 50 (TNF-alpha stimulated); ATP-binding cassette sub-family F member 1; ATP-binding cassette, sub-family F (GCN20), member 1; TNF-alpha-stimulated ABC protein; TNFalpha-inducible ATP-binding protein
Gene Aliases: ABC27; ABC50; ABCF1; AU041969; D17Wsu166e; GCN20
UniProt ID: (Human) Q8NE71, (Mouse) Q6P542, (Rat) Q6MG08
Entrez Gene ID: (Human) 23, (Mouse) 224742, (Rat) 85493
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