AMDHD2

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Description

The AMDHD2 (amidohydrolase domain containing 2) is a protein-coding gene located on chromosome 16.

AMDHD2 is involved in the degradation pathway of N-glycolylneuraminic acid (Neu5Gc). It hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P). Neu5Gc, while not produced in humans due to an inactive CMAHP enzyme, is present in food and needs to be broken down.

AMDHD2 is also known as CGI-14.

Associated Diseases