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GDSBA

Chr 22AD

trinucleotide repeat containing adaptor 6B

Also known as: GDSBA

NCBI Gene: 23112 OMIM: 619243

The protein encoded by this gene binds RNA and regulates mRNA degradation and microRNA-mediated gene silencing. Mutations cause global developmental delay with speech and behavioral abnormalities with autosomal dominant inheritance. The phenotype involves early developmental impairment affecting multiple domains including communication and behavior.

OMIM ResearchSummary from RefSeq, OMIM

Enables RNA binding activity. Involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; and regulatory ncRNA-mediated gene silencing. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. Implicated in subserous uterine fibroid and uterine fibroid. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…