Gene: SLC34A1

Alternate names for this Gene: FRTS2|HCINF2|NAPI-3|NPHLOP1|NPT2|NPTIIa|SLC11|SLC17A2

Gene Summary: This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: solute carrier family 34 member 1

Type of Gene: protein-coding

Gene: PFN3

Alternate names for this Gene: -

Gene Summary: The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: profilin 3

Type of Gene: protein-coding

rs17876049 in SLC34A1;PFN3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4976691 in SLC34A1;PFN3 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.