PODXL Chromosome 7

Podocalyxin like
18 variants 18 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
PODXL-related disorder
Inborn genetic diseases
Autosomal recessive juvenile Parkinson disease 2
Key Variants
All Variants (18)
RSID Category Clinical Significance Conditions
RS115466882 Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
RS138243217 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140866787 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PODXL-related disorder, Inborn genetic diseases
RS143652476 Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
RS147379975 Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
RS199529657 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199939288 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201551993 Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
RS201911803 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375173959 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377310580 Health Risk Conflicting classifications of pathogenicity
RS762024541 Health Risk Conflicting classifications of pathogenicity
RS769831427 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774563497 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554391082 Health Risk Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS2116787553 Health Risk Pathogenic
RS2485278976 Health Risk Pathogenic
RS748107948 Health Risk Pathogenic
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