RecName: Full=Cytoplasmic dynein 2 heavy chain 1; AltName: Full=Cytopl - Protein

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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. [Eur J Hum Genet. 2023]
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, et al. Eur J Hum Genet. 2023 Apr; 31(4):479-484. Epub 2023 Jan 4.
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants. [Mol Med Rep. 2021]
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
Xia CL, Xiao SQ, Yang X, Liu CX, Qiu H, Jiang HK, Li-Ling J, Lyu Y. Mol Med Rep. 2021 Jun; 23(6). Epub 2021 Apr 13.
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features. [Clin Genet. 2021]
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
Lee J, Lee H, Lee YM, Kuht HJ, Thomas MG, Kim SJ, Lee ST, Han J. Clin Genet. 2021 Jul; 100(1):111-113. Epub 2021 Mar 23.

RefSeq genomic sequence
See the genomic reference sequence for the DYNC2H1 gene (NG_016423.2).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the DYNC2H1 gene.

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Q8NCM8 [Domain Mapping of Disease Mut...]
Q8NCM8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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