KHDC3L : KH domain containing 3 like, subcortical maternal complex member

Description

KHDC3L (Kruppel and Homeobox Domain Containing 3-Like) is a gene that plays a crucial role in embryonic development, particularly in the formation of the nervous system and reproductive organs. This gene encodes a protein that acts as a transcription factor, regulating the expression of other genes involved in cell differentiation and growth. KHDC3L mutations have been linked to a range of developmental disorders, highlighting its importance in normal human development.

Associated Diseases

• Klinefelter syndrome (XXY)
• Turner syndrome (XO)
• 47,XYY syndrome
• Hypogonadotropic hypogonadism
• Cryptorchidism
• Hypospadias
• Intellectual disability

Did you know?

KHDC3L is highly expressed in the developing brain and gonads, suggesting its critical role in these tissues.