INPP5B Chromosome 1
Inositol polyphosphate-5-phosphatase B
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What This Gene Does
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]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000204084
Associated Conditions (1)
Dent disease type 2
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773387490 | Health Risk | Likely pathogenic | Dent disease type 2, Dent disease type 2 |