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:

Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required for the assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict dynein-driven microtubule sliding, thus aiding in the generation of ciliary bending.

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 108, GRCh38.p7) (NCBI)

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