ACD (gene)

Adrenocortical dysplasia homolog (mouse), also known as ACD, is a human gene.cite web | title = Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65057| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.cite web | title = Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65057| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=de Lange T |title=Shelterin: the protein complex that shapes and safeguards human telomeres. |journal=Genes Dev. |volume=19 |issue= 18 |pages= 2100–10 |year= 2005 |pmid= 16166375 |doi= 10.1101/gad.1346005
*cite journal | author=Songyang Z, Liu D |title=Inside the mammalian telomere interactome: regulation and regulatory activities of telomeres. |journal=Crit. Rev. Eukaryot. Gene Expr. |volume=16 |issue= 2 |pages= 103–18 |year= 2006 |pmid= 16749892 |doi=
*cite journal | author=Cristofari G, Sikora K, Lingner J |title=Telomerase unplugged. |journal=ACS Chem. Biol. |volume=2 |issue= 3 |pages= 155–8 |year= 2007 |pmid= 17373762 |doi= 10.1021/cb700037c
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |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=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=Liu D, Safari A, O'Connor MS, "et al." |title=PTOP interacts with POT1 and regulates its localization to telomeres. |journal=Nat. Cell Biol. |volume=6 |issue= 7 |pages= 673–80 |year= 2004 |pmid= 15181449 |doi= 10.1038/ncb1142
*cite journal | author=Ye JZ, Hockemeyer D, Krutchinsky AN, "et al." |title=POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. |journal=Genes Dev. |volume=18 |issue= 14 |pages= 1649–54 |year= 2004 |pmid= 15231715 |doi= 10.1101/gad.1215404
*cite journal | author=Houghtaling BR, Cuttonaro L, Chang W, Smith S |title=A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2. |journal=Curr. Biol. |volume=14 |issue= 18 |pages= 1621–31 |year= 2005 |pmid= 15380063 |doi= 10.1016/j.cub.2004.08.052
*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=Keegan CE, Hutz JE, Else T, "et al." |title=Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. |journal=Hum. Mol. Genet. |volume=14 |issue= 1 |pages= 113–23 |year= 2005 |pmid= 15537664 |doi= 10.1093/hmg/ddi011
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Hutz JE, Krause AS, Achermann JC, "et al." |title=IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. |journal=Mol. Genet. Metab. |volume=88 |issue= 1 |pages= 66–70 |year= 2006 |pmid= 16504561 |doi= 10.1016/j.ymgme.2006.01.006
*cite journal | author=Lim J, Hao T, Shaw C, "et al." |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801–14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032
*cite journal | author=O'Connor MS, Safari A, Xin H, "et al." |title=A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 32 |pages= 11874–9 |year= 2006 |pmid= 16880378 |doi= 10.1073/pnas.0605303103
*cite journal | author=Xin H, Liu D, Wan M, "et al." |title=TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase. |journal=Nature |volume=445 |issue= 7127 |pages= 559–62 |year= 2007 |pmid= 17237767 |doi= 10.1038/nature05469

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