Gene: RSPH14

Alternate names for this Gene: RTDR1

Gene Summary: This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.22-q11.23

Description of this Gene: radial spoke head 14 homolog

Type of Gene: protein-coding

rs13055979 in RSPH14 gene and Bone Density PMID 30690781 2019 Joint Association Analysis Identified 18 New Loci for Bone Mineral Density.

rs4820539 in RSPH14 gene and Bone Mineral Density Test PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.