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TMEM53 Genetransmembrane protein 53 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, Mar 2025] |
TMEM53 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for TMEM53 from the Pathway Commons Protein-Protein Interactions dataset. |
Protein of unknown function DUF829, TMEM53 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein of unknown function DUF829, TMEM53 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
TMEM53-related craniotubular dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TMEM53-related craniotubular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |