TMBIM4

Chr 12

transmembrane BAX inhibitor motif containing 4

Also known as: CGI-119, GAAP, LFG4, S1R, ZPRO

NCBI Gene: 51643 ENSG00000155957 UniProt: Q9HC24 OMIM: 616874

The TMBIM4 protein functions as an anti-apoptotic protein that inhibits cell death and modulates calcium signaling through capacitative calcium entry and IP3-mediated calcium release from the endoplasmic reticulum and Golgi. Mutations in TMBIM4 cause autosomal recessive spinal muscular atrophy with congenital bone fractures, characterized by early-onset neuromuscular weakness and skeletal fragility. The gene shows tolerance to loss-of-function variants (LOEUF 1.487), suggesting that complete loss of protein function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.49

LOEUF

Multiple*

Mechanism· predicted