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noggin (NOG)
Function:
1) role in cartilage morphogenesis & joint formation
2) inhibitor of bone morphogenetic proteins (BMP) signaling required for growth & patterning of neural tube & somite
Structure:
- homodimer, disulfide-linked
Compartment: secreted
Pathology:
- defects in NOG are associated with
- symphalangism proximal syndrome
- multiple synostoses syndrome-1
- tarsal-carpal coalition syndrome
- stapes ankylosis with broad thumb & toes
General
glycoprotein
secreted protein
Properties
SIZE: MW = 26 kD
entity length = 232 aa
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-27}
N-glycosylation site {N62}
Database Correlations
OMIM correlations
MORBIDMAP 602991
UniProt Q13253
Pfam PF05806
References
- UniProt :accession Q13253
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NOG