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TBC1D7-LOC100130357

Chr 6

TBC1D7-LOC100130357 readthrough

NCBI Gene: 107080638

The readthrough transcript between TBC1D7 and LOC100130357 may encode the same protein as TBC1D7, which functions as a component of the TSC1-TSC2-TBC1D7 complex that regulates mTORC1 signaling and cellular growth. Mutations in TBC1D7 cause intellectual disability with macrocephaly, seizures, and autism spectrum disorder with autosomal recessive inheritance. The clinical significance of this specific readthrough transcript remains unclear as it may be subject to nonsense-mediated decay.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]

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 (2)