Dynein, Cytoplasmic 1, Heavy Chain 1

Alternative Names

  • DYNC1H1
  • DNCH1
  • Dynein, Cytoplasmic-Like
  • DNCL
  • DNECL
  • Dynein Heavy Polypeptide, Cytoplasmic
  • DHC1
  • DHC1A
  • DNCHC1
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OMIM Number

600112

NCBI Gene ID

1778

Uniprot ID

Q14204

Length

91,916 bases

No. of Exons

78

No. of isoforms

1

Protein Name

Cytoplasmic dynein 1 heavy chain 1

Molecular Mass

532408 Da

Amino Acid Count

4646

Genomic Location

chr14:101,964,528-102,056,443

Gene Map Locus
14q32.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001376.4:c.752G>AUnited Arab EmiratesNC_000014.9:g.101979952G>ALikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCharcot-Marie-Tooth Disease, Axonal, Type 2ONG_008777.1:g.20425G>A; NM_001376.4:c.752G>A; NP_001367.2:p.Arg251His794727634197195
NM_001376.5:c.10973G>ASyria; United Arab Emi...NC_000014.9:g.102038524G>ALikely PathogenicLikely Pathogenic, PathogenicMental Retardation, Autosomal Dominant 13NG_008777.1:g.78997G>A; NM_001376.5:c.10973G>A; NP_001367.2:p.Gly3658Glu1595629181813289
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