NP_001368.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
105,369 Da
NCBI Official Full Name
cytoplasmic dynein 2 heavy chain 1 isoform 1
NCBI Official Synonym Full Names
dynein, cytoplasmic 2, heavy chain 1
NCBI Official Synonym Symbols
ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11 [Similar Products]
NCBI Protein Information
cytoplasmic dynein 2 heavy chain 1; dynein heavy chain 11; dynein heavy chain isotype 1B; dynein heavy chain, isotype 1B; dynein cytoplasmic heavy chain 2; dynein, cytoplasmic, heavy polypeptide 2
UniProt Protein Name
Cytoplasmic dynein 2 heavy chain 1
UniProt Synonym Protein Names
Cytoplasmic dynein 2 heavy chain; Dynein cytoplasmic heavy chain 2; Dynein heavy chain 11; hDHC11; Dynein heavy chain isotype 1B
UniProt Synonym Gene Names
UniProt Entry Name
DYHC2_HUMAN
NCBI Summary for DYNC2H1
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
UniProt Comments for DYNC2H1
DYNC2H1: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells. Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency. Defects in DYNC2H1 are the cause of short rib-polydactyly syndrome type 3 (SRPS3); also called Verma-Naumoff syndrome. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Belongs to the dynein heavy chain family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 11q21-q22.1
Cellular Component: dynein complex; Golgi apparatus; microtubule; apical part of cell; plasma membrane; motile primary cilium; axoneme; cytosol
Molecular Function: ATPase activity; motor activity; microtubule motor activity; ATP binding
Biological Process: asymmetric protein localization; dorsal/ventral pattern formation; organelle organization and biogenesis; forebrain development; antigen processing and presentation of exogenous peptide antigen via MHC class II; positive regulation of smoothened signaling pathway; cilium biogenesis; protein processing; spinal cord motor neuron differentiation; determination of left/right symmetry; Golgi organization and biogenesis; embryonic limb morphogenesis
Disease: Short-rib Thoracic Dysplasia 3 With Or Without Polydactyly
Research Articles on DYNC2H1
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Pathways associated with DYNC2H1 elisa kit
Diseases associated with DYNC2H1 elisa kit
Organs/Tissues associated with DYNC2H1 elisa kit
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