Gene: LOC107984661

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: DYNC1H1

Alternate names for this Gene: CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22

Gene Summary: Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.31

Description of this Gene: dynein cytoplasmic 1 heavy chain 1

Type of Gene: protein-coding

rs387906739 in LOC107984661;DYNC1H1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.