TMEM53
Function
Ensures normal bone formation, through the negative regulation of bone morphogenetic protein (BMP) signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of phosphorylated SMAD1/5/9 proteins.
Involvement in disease
Craniotubular dysplasia, Ikegawa type
CTDI
An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TMEM53 family.
Tissue Specificity
Isoform 1
Widely expressed.
Cellular localization
- Nucleus outer membrane
- Single-pass membrane protein
Alternative names
NET4, TMEM53, Transmembrane protein 53, Nuclear envelope transmembrane protein 4