DYNC1H1

DYNC1H1

A gene on chromosome 14q32.3-qter that encodes a cytoplasmic dynein complex protein which acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein’s ATPase produces a power stroke with the release of ADP.
References in periodicals archive ?
DNHD1 (DYNC1H1) is a member of the dynein heavy chain family and is highly expressed in the brain.
NGS techniques established autosomal dominant mutations of dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene [53] or motor adaptor bicaudal D homolog 2 (BICD2) gene [54, 55] as causes of SMALED 1 and SMALED2, respectively.
Additional mechanisms include structural and functional abnormalities of mitochondria, free radical-mediated oxidative stress, molecular transport by cation channeling (TRPV4), vitamin uptake (SLC52A3 and SLC52A2), nuclear transport (GLE1), lipid metabolism (ASAH1), and axonal transport (BICD2 and DYNC1H1).
Scoto et al., "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy, " Neurology, vol.
Jin, "A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance," Neurology: Genetics, vol.
Broix et al., "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly," Nature Genetics, vol.
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).
We have also observed the downregulation of many genes involved in mitochondrial transport such as the family of dynactins (DCTN1, 2, 3, 5, and 6), dyneins (DYNC1H1, DYNC1I1, and DYNC1LI1), kinesins (KIF1B and KIF5C), and Miro (data not shown).