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

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

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

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

• Chromosome 1
• Intellectual disability
• Developmental delay
• Hypotonia
• Sleep apnea

References

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External links

• AHDC1 at NCBI
• AHDC1 at Genetics Home Reference