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Dynein, cytoplasmic 2, heavy chain 1
Identifiers
Symbols DYNC2H1 ; ATD3; DHC1b; DHC2; DNCH2; DYH1B; SRPS2B; SRTD3; hdhc11
External IDs OMIM603297 MGI107736 HomoloGene14468 GeneCards: DYNC2H1 Gene
RNA expression pattern
PBB GE DYNC2H1 gnf1h02286 at tn.png
PBB GE DYNC2H1 gnf1h02290 at tn.png
PBB GE DYNC2H1 gnf1h02291 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79659 110350
Ensembl ENSG00000187240 ENSMUSG00000047193
UniProt Q8NCM8 Q45VK7
RefSeq (mRNA) NM_001080463 NM_029851
RefSeq (protein) NP_001073932 NP_084127
Location (UCSC) Chr 11:
102.98 – 103.35 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[edit]

References[edit]

  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. doi:10.1159/000015085. PMID 9763680. 
  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. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155. 
  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. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615. 
  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. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771. 

Further reading[edit]



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