TVP23C-CDRT4

Chr 17

TVP23C-CDRT4 readthrough

Also known as: FAM18B2-CDRT4

This locus encodes a readthrough fusion protein that combines sequences from the trans-Golgi network vesicle protein TVP23C with CDRT4, though the specific function of this fusion protein remains unclear. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe intellectual disability and refractory seizures. The gene shows very low constraint against loss-of-function variants, suggesting haploinsufficiency is likely tolerated.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

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Mechanism

Some data sources returned errors (1)