TCTEX1D1
tctex1d1 Gene: Understanding its Role in Health and Disease
Description
The tctex1d1 gene encodes a protein called tctex1d1, which plays a crucial role in various biological processes. Located on chromosome 11q23.3, it is involved in the regulation of cell growth, division, and survival. Tctex1d1 protein interacts with other molecules to form protein complexes involved in complex cellular pathways.
Associated Diseases
Mutations in the tctex1d1 gene have been linked to several disorders, including:
- Sensenbrenner Syndrome: A rare genetic condition characterized by intellectual disability, developmental delays, and distinctive facial features.
- Microcephaly with Hypomyelination (MHM): A neurodevelopmental disorder marked by an unusually small head (microcephaly) and impaired brain development (hypomyelination).
- Intellectual Disability: Tctex1d1 gene mutations have been associated with mild to moderate intellectual disability in some cases.
Did you Know ?
Studies have shown that approximately 1 in 50,000 individuals are affected by Sensenbrenner Syndrome, highlighting its rarity.
