HYDIN

HYDIN, axonemal central pair apparatus protein

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

From NCBI Gene:

This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

From UniProt:

Required for ciliary motility.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 5

From UniProt:

Ciliary dyskinesia, primary, 5 (CILD5): An autosomal recessive form of primary dyskinesia, 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. [MIM:608647]

Cytogenetic Location: 16q22.2, which is the long (q) arm of chromosome 16 at position 22.2

Molecular Location: base pairs 70,802,084 to 71,230,722 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q22.2, which is the long (q) arm of chromosome 16 at position 22.2
  • CILD5
  • HYDIN1
  • HYDIN2
  • PPP1R31