Putative RRAGB-related Disorder

Putative RRAGB-related Disorder is an exploratory candidate gene-disease association for which no formally recognized Mendelian syndrome or stable clinical spectrum has yet been established. The phenotype must therefore be defined from the index case or cases and tested experimentally rather than inferred from RRAGB biology alone.
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Genetics

RRAGB is located at Xp11.21 and encodes the small GTPase RagB. The pathogenicity, inheritance pattern and allelic mechanism of the candidate variant remain to be established through segregation, population, functional and in vivo evidence.

Molecular Mechanism

GTP-bound RagB forms a heterodimer with GDP-bound RagC or RagD at the lysosomal surface and recruits mTORC1 in response to aminoacid availability.

Therapy

No RRAGB-directed treatment exists. Clinical care must remain phenotype-driven. Pharmacologic mTOR modulation is only a mechanistic hypothesis and should not be proposed without demonstrating whether the candidate allele increases or decreases pathway activity in disease-relevant cells and tissues.

CCP Activity

CCP is generating a genetically defined RRAGB mouse model as an in vivo gene-disease validation study.

Mouse Models Mouse Models & Gene Cards

Mouse ModelsGene Cards
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