rs750868626
This variant is located in the BMP4 gene.
▶ClinVar annotation
Microphthalmia with brain and digit anomalies;Orofacial cleft 11; Inborn genetic diseases
View on ClinVar →About BMP4
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
View all BMP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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