rs765696227
This variant is located in the PODXL gene.
▶ClinVar annotation
not provided; Inborn genetic diseases
View on ClinVar →About PODXL
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]
View all PODXL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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