BGLAP

Gene Information
 
Gene Symbol
BGLAP
 
Aliases
BGP, OC, OCN
 
Entrez Gene ID
632
 
Gene Name
Bone gamma-carboxyglutamate (gla) protein
 
Chromosomal Location
1q22
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001501 Biological process Skeletal system development TAS 10865224
GO:0001649 Biological process Osteoblast differentiation IEP 17023519
GO:0007155 Biological process Cell adhesion NAS 12202187
GO:0030282 Biological process Bone mineralization NAS 10486212
GO:0033280 Biological process Response to vitamin D IEP 17023519
Protein Information
 
Protein Name
Osteocalcin
 
Function
Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR000294, IPR002384
 
Pfam
Pfam Accession Pfam ID
PF00594 Gla Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
 
OMIM

Associated Diseases

Diseases References
Insulin resistance 20694489
   
References
 
Primary:

Serum concentrations of carboxylated osteocalcin are increased and associated with several components of the polycystic ovarian syndrome.

Diamanti-Kandarakis Evanthia, Livadas Sarantis, Katsikis Ilias, Piperi Christine, Mantziou Aimilia, Papavassiliou Athanasios G, Panidis Dimitrios
Endocrine Section, First Department of Medicine, University of Athens Medical School, Mikras Asias 75, Goudi, 115-27, Athens, Greece. akandara@otenet.gr
J Bone Miner Metab. 2011 Mar;29(2):201-6. doi: 10.1007/s00774-010-0211-2. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Insulin resistance 
 
endocrine profile and ultrasonographic criteria 
Related 
 
These findings suggest a potential interaction between bone-derived markers and the metabolic/hormonal abnormalities observed in PCOS. 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412