| First Author | Abe T | Year | 1994 |
| Journal | Genomics | Volume | 19 |
| Issue | 2 | Pages | 369-72 |
| PubMed ID | 8188267 | Mgi Jnum | J:16769 |
| Mgi Id | MGI:64830 | Doi | 10.1006/geno.1994.1072 |
| Citation | Abe T, et al. (1994) The sequence of the human phosducin gene (PDC) and its 5'-flanking region. Genomics 19(2):369-72 |
| abstractText | Phosducin, a principal protein of the retinal photoreceptor cells, modulates the phototransduction cascade by interacting with transducin. Recently, it has been reported that phosducin is a protein virtually identical to the G-protein inhibitor protein (GIP) in brain. Here, we have sequenced the complete human gene (PDC) and 2215 bp of its 5'-flanking region. The gene is 18 kb in length and has four exons and three introns. The splicing sites for donor and acceptor are in good agreement with the GT/AG rule. Comparative studies of human and mouse phosducin revealed highly homologous sequences. Both the human phosducin gene and a mutant gene locus for Usher syndrome type II have been assigned to chromosome 1q25-q32. The association of this gene with a human disease locus suggests that phosducin may be a potential candidate gene for this disorder. |
