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Predicted to react with mouse based on sequence homology.
DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1) is a gene that encodes a protein belonging to the dynein family, which are motor proteins critical for various cellular processes. Dyneins are responsible for retrograde intracellular transport along microtubules, meaning they move cargo from the periphery of the cell towards the nucleus. The DYNC1H1 protein is a heavy chain component of cytoplasmic dynein 1, which plays a key role in the movement of organelles, vesicles, and other cellular components. Mutations in DYNC1H1 have been associated with several neurological disorders, including spinal muscular atrophy with lower extremity predominance (SMA-LED) and Charcot-Marie-Tooth disease type 2O (CMT2O). Research into DYNC1H1 continues to uncover its involvement in cellular mechanics and its implications in various genetic conditions.
仅用于科研。不用于诊断过程。未经明确授权不得转售。