QSOX2
qSOX2: A Gene with Profound Developmental and Disease Implications
Description
qSOX2 (SRY-box 2) is a key transcription factor gene involved in embryonic development, particularly in the formation of the central nervous system. It encodes a protein that regulates the expression of other genes involved in cell growth, differentiation, and survival.
Role in Development
qSOX2 plays a crucial role in early embryonic development by orchestrating the formation of the central nervous system, including the brain and spinal cord. It is expressed in neural progenitor cells, which give rise to all neural cells. qSOX2 helps to maintain the stem-like properties of these progenitor cells and controls their differentiation into various types of neurons and glial cells.
Associated Diseases
Mutations in the qSOX2 gene have been linked to several developmental disorders, including:
- Anophthalmia/Microphthalmia: Absence or underdevelopment of the eyes
- Pituitary Hormone Deficiencies: Growth hormone, thyroid hormone, or other hormone deficiencies
- Intellectual Disability: Cognitive and developmental delays
- Microcephaly: Small head size
- Neural Tube Defects: Birth defects of the brain and spinal cord
Did you Know ?
Studies have shown that mutations in the qSOX2 gene account for approximately 10% of cases of anophthalmia/microphthalmia, highlighting the significant role it plays in eye development.
