Gene Symbol | HINT1 |
Entrez Gene ID | 3094 |
Full Name | histidine triad nucleotide binding protein 1 |
Synonyms | HINT,NMAN,PKCI-1,PRKCNH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. 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. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3) |