CLXN Chromosome 8

Calaxin

3 variants 3 Health Risk

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What This Gene Does

Predicted to enable calcium ion binding activity. Predicted to be involved in several processes, including cilium movement; outer dynein arm assembly; and regulation of flagellated sperm motility. Located in sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"EF-hand domain containing|Outer dynein arm docking complex subunits"

Locus Type

gene with protein product

Location

8q11.21

Ensembl

ENSG00000034239

Associated Conditions (3)

Ciliary dyskinesia

primary

Key Variants

RS1803178017

Likely pathogenic

Ciliary dyskinesia, primary, 53

Health Risk

RS751867551

Likely pathogenic

Ciliary dyskinesia, primary, 53

Health Risk

RS2536798209

Pathogenic

Ciliary dyskinesia, primary, 53

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1803178017	Health Risk	Likely pathogenic	Ciliary dyskinesia, primary, 53
RS751867551	Health Risk	Likely pathogenic	Ciliary dyskinesia, primary, 53
RS2536798209	Health Risk	Pathogenic	Ciliary dyskinesia, primary, 53