BGLAP Chromosome 1

Bone gamma-carboxyglutamate protein
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS759330 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
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