Gene: RSPH6A

Alternate names for this Gene: RSHL1|RSP4|RSP6|RSPH4B

Gene Summary: The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2).

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: radial spoke head 6 homolog A

Type of Gene: protein-coding

rs8108474 in RSPH6A gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs8108474 in RSPH6A gene and Coronary Artery Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs16980027 in RSPH6A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.