SH3TC2

SH3 domain and tetratricopeptide repeats 2, also known as SH3TC2, is a human gene.cite web | title = Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79628| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.cite web | title = Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79628| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=LeGuern E, Guilbot A, Kessali M, "et al." |title=Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1685–8 |year= 1997 |pmid= 8894708 |doi=
*cite journal | author=Hiroi T, Hayashi-Kobayashi N, Nagumo S, "et al." |title=Identification and characterization of the human serotonin-4 receptor gene promoter. |journal=Biochem. Biophys. Res. Commun. |volume=289 |issue= 2 |pages= 337–44 |year= 2002 |pmid= 11716477 |doi= 10.1006/bbrc.2001.5979
*cite journal | author=Kikuno R, Nagase T, Waki M, Ohara O |title=HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project. |journal=Nucleic Acids Res. |volume=30 |issue= 1 |pages= 166–8 |year= 2002 |pmid= 11752282 |doi=
*cite journal | author=Nagase T, Kikuno R, Ohara O |title=Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. |journal=DNA Res. |volume=8 |issue= 6 |pages= 319–27 |year= 2002 |pmid= 11853319 |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=Senderek J, Bergmann C, Stendel C, "et al." |title=Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. |journal=Am. J. Hum. Genet. |volume=73 |issue= 5 |pages= 1106–19 |year= 2004 |pmid= 14574644 |doi=
*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=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=Wan D, Gong Y, Qin W, "et al." |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101
*cite journal | author=Gooding R, Colomer J, King R, "et al." |title=A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. |journal=J. Med. Genet. |volume=42 |issue= 12 |pages= e69 |year= 2006 |pmid= 16326826 |doi= 10.1136/jmg.2005.034132
*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=Claramunt R, Sevilla T, Lupo V, "et al." |title=The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. |journal=Clin. Genet. |volume=71 |issue= 4 |pages= 343–9 |year= 2007 |pmid= 17470135 |doi= 10.1111/j.1399-0004.2007.00774.x

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