TMBIM1 Chromosome 2

Transmembrane BAX inhibitor motif containing 1

1 variant 1 Health Risk

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What This Gene Does

Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Transmembrane BAX inhibitor motif containing

Locus Type

gene with protein product

Location

2q35

Ensembl

ENSG00000135926

Associated Conditions (1)

Moyamoya angiopathy

Key Variants

RS1404218898

Likely pathogenic

Moyamoya angiopathy, Moyamoya angiopathy

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1404218898	Health Risk	Likely pathogenic	Moyamoya angiopathy, Moyamoya angiopathy