RecName: Full=Cytoplasmic dynein 2 light intermediate chain 1; Short=D - Protein

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Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects. [Sci Rep. 2022]
Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
Qiu H, Tsurumi Y, Katoh Y, Nakayama K. Sci Rep. 2022 Jan 7; 12(1):31. Epub 2022 Jan 7.
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy. [Mol Genet Genomic Med. 2020]
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Zhang X, You Y, Xie X, Xu H, Zhou H, Lei Y, Sun P, Meng Y, Wang L, Lu Y. Mol Genet Genomic Med. 2020 Dec; 8(12):e1524. Epub 2020 Oct 8.
A child with congenital short gut associated with DYNC2LI1 ciliopathy. [Clin Dysmorphol. 2021]
A child with congenital short gut associated with DYNC2LI1 ciliopathy.
Bryson LJ, Flynn DM, Sabharwal A, Ahmed SF, Kinning E. Clin Dysmorphol. 2021 Jan; 30(1):66-68.

RefSeq genomic sequence
See the genomic reference sequence for the DYNC2LI1 gene (NG_053008.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the DYNC2LI1 gene.

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Q8TCX1 [Domain Mapping of Disease Mut...]
Q8TCX1
Domain Mapping of Disease Mutations
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