Paroxysmal Nonkinesiogenic Dyskinesia (PNKD)

The transcript contains a repetitive sequence in the 3-prime UTR, and the deduced 380-amino acid protein shares 43% identity over 260 amino acids with human hydroxyacylglutathione hydrolase (HAGH). RT-PCR ELISA detected KIAA1184 expression in all tissues and specific brain regions examined. Highest expression was in adult brain, followed by fetal brain, skeletal muscle, and ovary, with lower expression in spleen, heart, testis, lung, liver, kidney, fetal liver, and pancreas. Specific brain regions showed intermediate to high expression, with the highest level in cerebellum.

MR1L results in a 385-amino acid protein with a molecular mass of 42.9 kD and that MR1M results in a 361-amino acid protein with a molecular mass of 40.7 kD.