SHOX2
SHO2: A Vital Gene for Development and Disease
Description
The SOX2 gene, located on chromosome 3q26.33, encodes the transcription factor SOX2 (SRY-box 2). This gene plays a crucial role in embryonic development, cell differentiation, and organ formation. SOX2 is expressed in the pluripotent stem cells of the developing embryo and is essential for maintaining their undifferentiated state.
Associated Diseases
Mutations in the SOX2 gene have been linked to several developmental disorders, including:
- Anophthalmia/Microphthalmia: Congenital absence or underdevelopment of the eyes.
- Syndromic Craniosynostosis: Abnormal skull shape due to premature fusion of the skull bones.
- Microcephaly: Abnormal smallness of the head.
- Intellectual Disability: Cognitive impairment ranging from mild to severe.
- Hypopituitarism: Deficient hormone production by the pituitary gland.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide are affected by anophthalmia/microphthalmia caused by mutations in the SOX2 gene.
