Recombinant Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1), Truncated

Uniprot Id

Q8NCM8

Target Species

Human

Target Name

DYNC2H1

Target Full Name

Cytoplasmic dynein 2 heavy chain 1

Target Function

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.

Target Involvement

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)

Target Subcellular Location

Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm.

Target Protein Families

Dynein heavy chain family

Target Synonyms

Cytoplasmic dynein 2 heavy chain 1; Cytoplasmic dynein 2 heavy chain; DYHC2_HUMAN; DYNC2H1; Dynein cytoplasmic heavy chain 2; Dynein heavy chain 11; Dynein heavy chain isotype 1B; hDHC11

Target Background

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.