GREM2 Chromosome 1

Gremlin 2, DAN family BMP antagonist
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DAN family
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000180875
Associated Conditions (3)
Tooth agenesis
selective
9
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS373941682 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective, 9
RS1057519288 Health Risk Pathogenic Tooth agenesis, selective, 9
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