AHDC1
AHDC1 is a gene that provides instructions for making a protein whose function is not well understood. This gene is located on the short (p) arm of chromosome 1 at position 36.11. More specifically, the AHDC1 gene is located from base pair 23,709,769 to base pair 23,732,974 on chromosome 1.
Function[edit | edit source]
The AHDC1 gene provides instructions for making a protein that is found in many parts of the body. Although the exact function of this protein is unknown, it is thought to play a role in the development of the brain and other parts of the nervous system.
Clinical significance[edit | edit source]
Mutations in the AHDC1 gene have been associated with Intellectual disability, Developmental delay, Hypotonia, and Sleep apnea. These conditions are often grouped together and referred to as AHDC1-related intellectual disability.
Genetics[edit | edit source]
The AHDC1 gene is located on the short (p) arm of chromosome 1 at position 36.11. More specifically, the AHDC1 gene is located from base pair 23,709,769 to base pair 23,732,974 on chromosome 1.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
AHDC1 Resources | ||
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Contributors: Prab R. Tumpati, MD