RCBTB2

Chr 13

RCC1 and BTB domain containing protein 2

Also known as: CHC1L, RLG

NCBI Gene: 1102 ENSG00000136161 UniProt: O95199

The protein contains BTB/POZ domains and may function as a guanine nucleotide exchange factor involved in chromosome condensation regulation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and seizures beginning in infancy. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.94

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)