The bmpr1a protein is a bone morphogenetic protein type 1A transmembrane serine/threonine kinase receptor that transduces BMP signals. It functions in dorsoventral patterning and neural crest formation...[+]

The bmpr1a protein is a bone morphogenetic protein type 1A transmembrane serine/threonine kinase receptor that transduces BMP signals. It functions in dorsoventral patterning and neural crest formation by phosphorylating SMAD1/5/8 proteins which then regulate gene transcription. Expression patterns are detected in the ventral mesoderm, cement gland, olfactory placode, branchial arches, otic vesicle, and pronephros during development. [-]

             juvenile polyposis syndrome
             chromosome 10q23 deletion syndrome
             Cowden syndrome
             hereditary mixed polyposis syndrome 2

          JUVENILE POLYPOSIS SYNDROME; JPS
          POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
          CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD

GSE83784.