TMEM53 Chromosome 1
Transmembrane protein 53
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What This Gene Does
Involved in negative regulation of BMP signaling pathway; negative regulation of ossification; and regulation of nucleocytoplasmic transport. Located in nuclear membrane. Implicated in craniotubular dysplasia Ikegawa type. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (3)
TMEM53-related craniotubular dysplasia
Craniotubular dysplasia
Ikegawa type
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1644838064 | Health Risk | Pathogenic | TMEM53-related craniotubular dysplasia, Craniotubular dysplasia, Ikegawa type |
| RS1644889088 | Health Risk | Pathogenic/Likely pathogenic | TMEM53-related craniotubular dysplasia, Craniotubular dysplasia, Ikegawa type |