Cytoplasmic dynein 2 heavy chain 1
The DYNC2H1 gene encodes a dynein protein involved in intraflagellar transport. Mutations cause autosomal recessive and digenic recessive Short-rib thoracic dysplasia with or without polydactyly type 6.
Genetests:
Related Diseases:
References:
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Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
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Schmidt H et al. (2015) Structure of human cytoplasmic dynein-2 primed for its power stroke.
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Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia.
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Pazour GJ et al. (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
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5. |
Criswell PS et al. (1998) Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.
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Kastury K et al. (1997) Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.
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Criswell PS et al. (1996) A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.
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8. |
Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.
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Vaisberg EA et al. (1996) Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.
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Gibbons BH et al. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.
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11. |
Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
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Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.
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Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
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14. |
El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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NCBI article
NCBI 79659
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OMIM.ORG article
Omim 603297
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Orphanet article
Orphanet ID 183938
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18. |
Wikipedia article
Wikipedia EN (DYNC2H1)
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Update: Aug. 14, 2020