ARMC4 gene

armadillo repeat containing 4

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

From NCBI Gene:

The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

From UniProt:

Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Primary ciliary dyskinesia 23

From UniProt:

Ciliary dyskinesia, primary, 23 (CILD23): 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:615451]

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1

Molecular Location: base pairs 27,796,355 to 27,999,050 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1
  • CILD23