NAALADL2


Description

The NAALADL2 (N-acetylated alpha-linked acidic dipeptidase like 2) is a protein-coding gene located on chromosome 3.

NAALADL2, a protein encoded by the human gene NAALADL2, shares similarities with the glutamate carboxypeptidase II family, which includes prostate cancer marker PSMA (FOLH1/NAALAD1). Despite its size, spanning 1.37 Mb, and numerous splice variants (12), the exact function of NAALADL2 remains unknown. While showing homology to N-acetylated alpha-linked acidic dipeptidase and transferrin receptors, NAALADL2 lacks key conserved amino acids essential for metallopeptidase function, suggesting potential catalytic inactivity. NAALADL2 has been implicated in Cornelia De Lange syndrome due to a translocation breakpoint at 3q26.3 and is associated with Kawasaki disease, as indicated by the rs17531088 SNP. Additionally, NAALADL2 has been linked to prostate cancer.

NAALADL2 is also known as -.

Associated Diseases



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