rs753273148
This variant is located in the INPP5B gene.
▶ClinVar annotation
About INPP5B
This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]
View all INPP5B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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