HINT1
histidine triad nucleotide binding protein 1
Normal Function
Health Conditions Related to Genetic Changes
Autosomal recessive axonal neuropathy with neuromyotonia
At least nine mutations in the HINT1 gene have been found to cause autosomal recessive axonal neuropathy with neuromyotonia. This neurological condition affects the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch. People with this condition typically have muscle weakness in the feet, legs, and hands and delayed relaxation of muscles after tensing (neuromyotonia). Some affected individuals have mildly impaired sensations.
The HINT1 gene mutations that cause this condition change single protein building blocks (amino acids) in the HINT1 protein. These changes reduce or eliminate the protein's ability to perform the hydrolysis reaction. Sometimes the altered protein is broken down prematurely. It is not clear how loss of functional HINT1 protein affects the peripheral nerves or leads to the signs and symptoms of this condition.
More About This Health ConditionRelated Conditions
Autosomal recessive axonal neuropathy with neuromyotoniaCharcot-Marie-Tooth disease
Health Conditions Related to Genetic Changes
At least nine mutations in the HINT1 gene have been found to cause autosomal recessive axonal neuropathy with neuromyotonia. This neurological condition affects the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch. People with this condition typically have muscle weakness in the feet, legs, and hands and delayed relaxation of muscles after tensing (neuromyotonia). Some affected individuals have mildly impaired sensations.
The HINT1 gene mutations that cause this condition change single protein building blocks (amino acids) in the HINT1 protein. These changes reduce or eliminate the protein's ability to perform the hydrolysis reaction. Sometimes the altered protein is broken down prematurely. It is not clear how loss of functional HINT1 protein affects the peripheral nerves or leads to the signs and symptoms of this condition.
MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease