BAALC

Chr 8

BAALC binder of MAP3K1 and KLF4

NCBI Gene: 79870 ENSG00000164929 UniProt: Q8WXS3 OMIM: 606602

BAALC encodes a protein that may function at postsynaptic lipid rafts through interaction with calcium/calmodulin-dependent protein kinase II alpha. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain malformations. The gene shows low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.55

LOEUF

Multiple*

Mechanism· predicted