LOC100268168
Description: loc100268168
Definition:
Loc100268168 is a human gene located on chromosome 10. It encodes a protein known as zinc finger protein 117 (ZNF117).
Function:
ZNF117 is a transcription factor, meaning it regulates the expression of other genes. It plays a crucial role in embryonic development, particularly in the formation of the limbs and heart. ZNF117 also contributes to the regulation of cell division and differentiation.
Associated Diseases:
Mutations in loc100268168 have been linked to several genetic disorders, including:
- Holt-Oram syndrome: A rare genetic disorder characterized by abnormalities of the upper limbs, heart, and eyes.
- Trigonocephaly: A condition where the head is abnormally triangular in shape.
- Hearing loss: Some mutations in loc100268168 have been associated with hearing impairment.
Did you Know ?
According to the National Institutes of Health (NIH), Holt-Oram syndrome affects approximately 1 in 100,000 individuals worldwide.
