BCL7C

Chr 16

BAF chromatin remodeling complex subunit BCL7C

Also known as: SMARCJ3

NCBI Gene: 9274 ENSG00000099385 UniProt: Q8WUZ0

The BCL7C protein may have anti-apoptotic functions, though its precise cellular role remains unclear. Mutations in BCL7C cause neurodevelopmental disorders with intellectual disability and developmental delay. BCL7C follows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.72

LOEUF

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Mechanism

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