BAMBI

Chr 10

BMP and activin membrane bound inhibitor

Also known as: NMA

NCBI Gene: 25805 ENSG00000095739 UniProt: Q13145 OMIM: 604444

The protein negatively regulates TGF-beta signaling by functioning as a pseudoreceptor that lacks the intracellular kinase domain required for signal transduction. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay with onset in early infancy. This gene is loss-of-function tolerant, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.24

LOEUF

Mechanism· predicted