HINT1 Chromosome 5
Histidine triad nucleotide binding protein 1
Upload your DNA to see your personal genotypes for variants in HINT1.
What This Gene Does
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]
Gene Info
Gene Group
Histidine triad superfamily
Locus Type
gene with protein product
Location
5q23.3
Ensembl
ENSG00000169567
Associated Conditions (5)
Autosomal recessive axonal neuropathy with neuromyotonia
Inborn genetic diseases
Sensory axonal neuropathy
Charcot-Marie-Tooth disease
Peripheral neuropathy
Key Variants
RS1048322333
Conflicting classifications of pathogenicity
Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS373197800
Conflicting classifications of pathogenicity
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS768248277
Conflicting classifications of pathogenicity
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS1554088064
Likely pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS1561537267
Likely pathogenic
Sensory axonal neuropathy, Sensory axonal neuropathy
Health Risk
RS2149654857
Likely pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS2479570025
Likely pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS397514493
Likely pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS762701283
Likely pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS1028404937
Pathogenic
Charcot-Marie-Tooth disease, Autosomal recessive axonal neuropathy with neuromyotonia, Charcot-Marie-Tooth disease
Health Risk
RS1289497047
Pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
RS145306016
Pathogenic
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1048322333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS373197800 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS768248277 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS1554088064 | Health Risk | Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS1561537267 | Health Risk | Likely pathogenic | Sensory axonal neuropathy, Sensory axonal neuropathy |
| RS2149654857 | Health Risk | Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS2479570025 | Health Risk | Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514493 | Health Risk | Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS762701283 | Health Risk | Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS1028404937 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Autosomal recessive axonal neuropathy with neuromyotonia, Charcot-Marie-Tooth disease |
| RS1289497047 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS145306016 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS149782619 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Peripheral neuropathy, Inborn genetic diseases |
| RS1561535921 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS1580682390 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Autosomal recessive axonal neuropathy with neuromyotonia, Charcot-Marie-Tooth disease |
| RS1580686455 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS1755286581 | Health Risk | Pathogenic | — |
| RS1755365079 | Health Risk | Pathogenic | — |
| RS2149651165 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS2149654884 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS2479569695 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514489 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514491 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514492 | Health Risk | Pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS373849532 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514490 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia, Peripheral neuropathy, Autosomal recessive axonal neuropathy with neuromyotonia |