BCL2L14

Chr 12

BCL2 like 14

Also known as: BCLG

NCBI Gene: 79370 ENSG00000121380 UniProt: Q9BZR8 OMIM: 606126

The protein belongs to the BCL2 family and regulates apoptosis, with overexpression inducing cell death. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy or early childhood. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.11

LOEUF

Multiple*

Mechanism· predicted