P49773

HINT1 also known as PRKCNH1 or PKCI1, is a 126 amino acid protein that localizes to both the cytoplasm and the nucleus and contains one HIT (histidine triad) domain. Widely expressed and existing as a homodimer, HiINT1 functions to hydrolyze adenosine 5′-monophosphoramidate substrates, such as AMP-N-alanine methyl ester, AMP-morpholidate and AMP-alpha-acetyl lysine methyl ester, and may also inhibit PKC function and influence apoptosis. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed.