Gene: PODXL

Alternate names for this Gene: Gp200|PC|PCLP|PCLP-1|PDX|PODXL1|gp135

Gene Summary: This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.3

Description of this Gene: podocalyxin like

Type of Gene: protein-coding

rs1554391082 in PODXL gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 26864383 2016 Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.

rs3800684 in PODXL gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.