Aliases: ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
Chromosome No: 4
Chromosome Band: 4q22.3
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
BMPR1B was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families.
Molecular Function
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding.
External Links
