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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.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein heavy chain 1; Dynein heavy chain, cytosolic; dynein, cytoplasmic 1, heavy chain 1; dynein, cytoplasmic, heavy polypeptide 1
基因别名: CMT2O; DHC1; DHC1a; DNCH1; Dnchc1; DNCL; DNECL; DYHC; DYNC1H1; HL-3; KIAA0325; p22; SMALED1
UniProt ID: (Human) Q14204
Entrez Gene ID: (Human) 1778