BGLAP Chromosome 1
Bone gamma-carboxyglutamate protein
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What This Gene Does
This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000242252
Associated Conditions (2)
Nephrolithiasis
calcium oxalate
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS759330 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |