DRC1 gene

dynein regulatory complex subunit 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]

From UniProt:

Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 21

From UniProt:

Ciliary dyskinesia, primary, 21 (CILD21): A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:615294]

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3

Molecular Location: base pairs 26,401,912 to 26,456,713 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3
  • C2orf39
  • CCDC164
  • CILD21