Entrez 1778 | Ensembl ENSG00000197102 | |
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Aliases DYNC1H1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1 External IDs MGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1 | ||
Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.
Contents
Interactions
DYNC1H1 has been shown to interact with PAFAH1B1 and CDC5L.
Clinical relevance
Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease as well as spinal muscular atrophy with lower extremity predominance (SMA-LED).
References
DYNC1H1 Wikipedia(Text) CC BY-SA