This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Two alternatively spliced transcript variants that encode different proteins have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y.
Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.
A synthesized peptide derived from human Ameloblastin, corresponding to a region within the internal amino acids.
A synthesized peptide derived from Human Amelotin.
A synthesized peptide derived from human AMELX, corresponding to a region within the internal amino acids.
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts witHuman, Mouseany other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS).
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