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MRT75

Chr 11

p53-induced death domain protein 1

Also known as: LRDD, MRT75, PIDD, altPIDD1

NCBI Gene: 55367

This protein contains leucine-rich repeats and a death domain, functioning as an adaptor protein in apoptotic signaling pathways by interacting with death domain proteins like FADD. Mutations cause autosomal recessive intellectual disability (MRT75), typically presenting in early childhood with developmental delays affecting cognitive function. The gene appears to play a critical role in p53-mediated apoptosis in response to DNA damage.

ResearchSummary from RefSeq

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)