QuickView for DYNC2H1 (gene)

Gene Symbol:

DYNC2H1 Homo sapiens

Full name:

dynein cytoplasmic 2 heavy chain 1

Synonyms:

ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, cytoplasmic dynein 2 heavy chain 1, dynein cytoplasmic heavy chain 2, dynein heavy chain 11, dynein heavy chain, isotype 1B, dynein, cytoplasmic, heavy polypeptide 2

Genomic Location:

Chr 11: 102485370-102855801

Description:

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, abnor...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

11q22.3

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