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]
Function:
Required for ciliary motility.
Subcellular Location:
Cell projection, cilium
DISEASE:
Primary ciliary dyskinesia 5
SWISS:
Q4G0P3
Gene ID:
54768
Database links:
Entrez Gene: 54768 Human
Omim: 610812 Human
SwissProt: Q4G0P3 Human
Unigene: 461229 Human
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