DYNC1H1 : dynein cytoplasmic 1 heavy chain 1

Description

The DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is a protein-coding gene located on chromosome 14.

The DYNC1H1 gene provides instructions for making a protein that is part of a complex called dynein, found in the cytoplasm of cells. Dynein is activated by binding to dynactin, and this complex moves materials along microtubules, similar to a conveyor belt. This movement is essential for various cellular processes, including protein transport, positioning of cell compartments, and movement of structures within the cell. Dynein also plays a role in nerve cell communication by transporting synaptic vesicles, containing chemical messengers, between neurons. The dynein complex consists of different subunits, including heavy, intermediate, light intermediate, and light chains. The protein produced from the DYNC1H1 gene is a heavy chain, and other subunits are produced from different genes.

Cytoplasmic dynein 1 serves as a motor protein responsible for the retrograde movement of vesicles and organelles along microtubules within cells. It utilizes ATP hydrolysis to generate the force for movement, with the power stroke thought to occur upon ADP release. Additionally, cytoplasmic dynein 1 plays a crucial role in the assembly of the mitotic spindle and the alignment of chromosomes at the metaphase plate during cell division.

DYNC1H1 is also known as CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22.

Associated Diseases

• Charcot-marie-tooth disease, axonal, type 2O
• Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
• Intellectual developmental disorder, autosomal dominant 13
• Charcot-Marie-Tooth disease
• Spinal muscular atrophy with lower extremity predominance