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Open Access Articles- Top Results for DYNC2H1

DYNC2H1

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Identifiers
SymbolsDYNC2H1 ; ATD3; DHC1b; DHC2; DNCH2; DYH1B; SRPS2B; SRTD3; hdhc11
External IDsOMIM603297 MGI107736 HomoloGene14468 GeneCards: DYNC2H1 Gene
RNA expression pattern
File:PBB GE DYNC2H1 gnf1h02286 at tn.png
File:PBB GE DYNC2H1 gnf1h02290 at tn.png
File:PBB GE DYNC2H1 gnf1h02291 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez79659110350
EnsemblENSG00000187240ENSMUSG00000047193
UniProtQ8NCM8Q45VK7
RefSeq (mRNA)NM_001080463NM_029851
RefSeq (protein)NP_001073932NP_084127
Location (UCSC)Chr 11:
103.11 – 103.48 Mb
Chr 9:
6.93 – 7.18 Mb
PubMed search[1][2]

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.[1][2][3]

It is associated with Short rib-polydactyly syndrome type 3.[4]

It is also associated with Asphyxiating thoracic dysplasia.[5]


See also

References

  1. ^ Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet 82 (1–2): 123–5. PMID 9763680. doi:10.1159/000015085. 
  2. ^ Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene 200 (1–2): 193–202. PMID 9373155. doi:10.1016/S0378-1119(97)00417-4. 
  3. ^ "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1". 
  4. ^ Merrill AE, Merriman B, Farrington-Rock C et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. PMC 2667993. PMID 19361615. doi:10.1016/j.ajhg.2009.03.015. 
  5. ^ Dagoneau N, Goulet M, Geneviève D et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. PMC 2681009. PMID 19442771. doi:10.1016/j.ajhg.2009.04.016. 

Further reading

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