Immunogen sequence: TKPLHQFFLN TTGFSFQDCH DRCLAFTDVA PRGVASGQRR SWLIIQRYVE GYFLHPTGLE LLVDHGSTDA GHWA
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.
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Protein Aliases: amiloride binding protein 1 (amine oxidase (copper-containing)); Amiloride-binding protein 1; amiloride-sensitive amine oxidase; Amiloride-sensitive amine oxidase [copper-containing]; Amine oxidase copper domain-containing protein 1; DAO; diamine oxidase; Histaminase; KAO; Kidney amine oxidase
Gene Aliases: ABP; ABP1; AOC1; DAO; DAO1; KAO
UniProt ID: (Human) P19801
Entrez Gene ID: (Human) 26