DAND5 Chromosome 19

DAN domain BMP antagonist family member 5
1 variant 1 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 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. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DAN family
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000179284
Associated Conditions (1)
Heterotaxy
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS768842269 Health Risk Pathogenic/Likely pathogenic Heterotaxy, Heterotaxy
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