Aliases for BMP4 Gene
External Ids for BMP4 Gene
Previous HGNC Symbols for BMP4 Gene
Previous GeneCards Identifiers for BMP4 Gene
This gene encodes a member of the bone morphogenetic protein (BMP) family of proteins, which is part of the transforming growth factor-beta (TGF-beta) superfamily. Members of the BMP family play an important role in bone and cartilage development. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
GeneCards Summary for BMP4 Gene
BMP4 (Bone Morphogenetic Protein 4) is a Protein Coding gene. Diseases associated with BMP4 include orofacial cleft 11 and microphthalmia, syndromic 6. Among its related pathways are Degradation of the extracellular matrix and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.
UniProtKB/Swiss-Prot for BMP4 Gene
Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).