AIPL1

Aryl hydrocarbon receptor interacting protein-like 1, also known as AIPL1, is a human gene.cite web | title = Entrez Gene: AIPL1 aryl hydrocarbon receptor interacting protein-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23746| accessdate = ]

PBB_Summary
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summary_text = Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.cite web | title = Entrez Gene: AIPL1 aryl hydrocarbon receptor interacting protein-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23746| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Sohocki MM, Malone KA, Sullivan LS, Daiger SP |title=Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders. |journal=Genomics |volume=58 |issue= 1 |pages= 29–33 |year= 1999 |pmid= 10331942 |doi= 10.1006/geno.1999.5810
*cite journal | author=Sohocki MM, Bowne SJ, Sullivan LS, "et al." |title=Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. |journal=Nat. Genet. |volume=24 |issue= 1 |pages= 79–83 |year= 2000 |pmid= 10615133 |doi= 10.1038/71732
*cite journal | author=Damji KF, Sohocki MM, Khan R, "et al." |title=Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. |journal=Can. J. Ophthalmol. |volume=36 |issue= 5 |pages= 252–9 |year= 2002 |pmid= 11548141 |doi=
*cite journal | author=van der Spuy J, Chapple JP, Clark BJ, "et al." |title=The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. |journal=Hum. Mol. Genet. |volume=11 |issue= 7 |pages= 823–31 |year= 2002 |pmid= 11929855 |doi=
*cite journal | author=Akey DT, Zhu X, Dyer M, "et al." |title=The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. |journal=Hum. Mol. Genet. |volume=11 |issue= 22 |pages= 2723–33 |year= 2003 |pmid= 12374762 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ramamurthy V, Roberts M, van den Akker F, "et al." |title=AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 22 |pages= 12630–5 |year= 2004 |pmid= 14555765 |doi= 10.1073/pnas.2134194100
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Kanaya K, Sohocki MM, Kamitani T |title=Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis. |journal=Biochem. Biophys. Res. Commun. |volume=317 |issue= 3 |pages= 768–73 |year= 2004 |pmid= 15081406 |doi= 10.1016/j.bbrc.2004.03.108
*cite journal | author=Akey DT, Zhu X, Dyer M, "et al." |title=Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors. |journal=Adv. Exp. Med. Biol. |volume=533 |issue= |pages= 287–95 |year= 2004 |pmid= 15180275 |doi=
*cite journal | author=Dharmaraj S, Leroy BP, Sohocki MM, "et al." |title=The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. |journal=Arch. Ophthalmol. |volume=122 |issue= 7 |pages= 1029–37 |year= 2004 |pmid= 15249368 |doi= 10.1001/archopht.122.7.1029
*cite journal | author=van der Spuy J, Cheetham ME |title=The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. |journal=J. Biol. Chem. |volume=279 |issue= 46 |pages= 48038–47 |year= 2005 |pmid= 15347646 |doi= 10.1074/jbc.M407871200
*cite journal | author=Liu X, Bulgakov OV, Wen XH, "et al." |title=AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 38 |pages= 13903–8 |year= 2004 |pmid= 15365173 |doi= 10.1073/pnas.0405160101
*cite journal | author=Gallon VA, Wilkie SE, Deery EC, "et al." |title=Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. |journal=Biochim. Biophys. Acta |volume=1690 |issue= 2 |pages= 141–9 |year= 2004 |pmid= 15469903 |doi= 10.1016/j.bbadis.2004.06.012
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Booij JC, Florijn RJ, ten Brink JB, "et al." |title=Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. |journal=J. Med. Genet. |volume=42 |issue= 11 |pages= e67 |year= 2006 |pmid= 16272259 |doi= 10.1136/jmg.2005.035121

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