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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein heavy chain 1; Dynein heavy chain, cytosolic; dynein heavy chain, retrograde transport; dynein, cytoplasmic 1, heavy chain 1; dynein, cytoplasmic, heavy chain 1; dynein, cytoplasmic, heavy polypeptide 1; legs at odd angle; sprawling
Gene Aliases: 9930018I23Rik; AI894280; CMT2O; DHC1; DHC1a; DNCH1; Dnchc1; DNCL; Dnec1; DNECL; DYHC; DYNC1H1; HL-3; KIAA0325; Loa; MAP1C; mKIAA0325; P22; SMALED1; Swl
UniProt ID: (Human) Q14204, (Mouse) Q9JHU4
Entrez Gene ID: (Human) 1778, (Mouse) 13424
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