DYNC1H1: Difference between revisions
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==Clinical relevance== |
==Clinical relevance== |
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Mutations in this gene have been shown to cause dominant axonal [[Charcot-Marie-Tooth]] disease<ref name=pmid21820100>{{cite journal| |
Mutations in this gene have been shown to cause dominant axonal [[Charcot-Marie-Tooth]] disease.<ref name="pmid21820100">{{cite journal | author = Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S | title = Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease | journal = Am. J. Hum. Genet. | volume = 89 | issue = 2 | pages = 308–12 | year = 2011 | month = August | pmid = 21820100 | pmc = 3155164 | doi = 10.1016/j.ajhg.2011.07.002 }}</ref> |
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==References== |
==References== |
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Revision as of 11:21, 30 December 2011
Template:PBB Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[1][2][3]
Interactions
DYNC1H1 has been shown to interact with PAFAH1B1[4] and CDC5L.[5]
Clinical relevance
Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease.[6]
References
- ^ Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB (2005). "Cytoplasmic dynein nomenclature". J Cell Biol. 171 (3): 411–3. doi:10.1083/jcb.200508078. PMC 2171247. PMID 16260502.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Vaisberg EA, Grissom PM, McIntosh JR (1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J Cell Biol. 133 (4): 831–42. doi:10.1083/jcb.133.4.831. PMC 2120833. PMID 8666668.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1".
- ^ Tai, Chin-Yin (2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". J. Cell Biol. 156 (6). United States: 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479. PMID 11889140.
{{cite journal}}: Check date values in:|year=(help); Cite has empty unknown parameters:|laydate=,|laysummary=, and|laysource=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help)CS1 maint: year (link) - ^ Ajuh, P (2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. 19 (23). ENGLAND: 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529.
{{cite journal}}: Check date values in:|year=(help); Cite has empty unknown parameters:|laydate=,|laysummary=, and|laysource=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help)CS1 maint: year (link) - ^ Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (2011). "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease". Am. J. Hum. Genet. 89 (2): 308–12. doi:10.1016/j.ajhg.2011.07.002. PMC 3155164. PMID 21820100.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
Further reading
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