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Rabbit Anti-MGLAP/GIG36/FITC Conjugated antibody
background:
The protein encoded by this gene is secreted and likely acts as an inhibitor of bone formation. The encoded protein is found in the organic matrix of bone and cartilage. Defects in this gene are a cause of Keutel syndrome (KS). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Function:
Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.
Subcellular Location:
Secreted.
Post-translational modifications:
Requires vitamin K-dependent gamma-carboxylation for its function.
DISEASE:
Defects in MGP are the cause of Keutel syndrome (KS) [MIM:245150]. KS is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
Similarity:
Belongs to the osteocalcin/matrix Gla protein family.
Contains 1 Gla (gamma-carboxy-glutamate) domain.
Database links:
Entrez Gene: 4256 Human
Entrez Gene: 17313 Mouse
Entrez Gene: 25333 Rat
Omim: 154870 Human
SwissProt: P08493 Human
SwissProt: P19788 Mouse
SwissProt: P08494 Rat
Unigene: 365706 Human
Unigene: 243085 Mouse
Unigene: 2379 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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