DYNC1H1 Proteins and Enzymes

The DYNC1H1 gene encodes a cytoplasmic dynein 1 heavy chain 1 protein that is 4,646 amino acids long at 532 kDA. Dyneines function as molecular motors that contain ATPase activity. Defects in DYNC1H1 cause Charcot-Marie-Tooth Disease type 2O (CMT2O), mental retardation autosomal dominant type 13 (MRD13), as well as spinal muscular atrophy, lower extremity, autosomal dominant (SMALED). DYNC1H1 has also been investigated by researchers in myeloma, neuropathy, ciliary dyskinesia, lateral ...