The SLITRK6 gene is associated with several health conditions, including deafness and myopia (nearsightedness). According to PubMed, this gene has been listed in the online genetic testing registry and is related to changes in the SLITRK6 gene. The variants of…
The SLC6A19 gene, also known as b0AT1, is a sodium-dependent transporter that transports neutral amino acids, such as tryptophan and histidine, from the intestines and kidneys into the blood. It is encoded by the SLC6A19 gene. Changes in this gene…
HSD10 disease is a rare and complex neonatal disease caused by mutations in the genes HSD17B10 and HSD10. These genes encode proteins that are involved in the development of the heart, skills, and other developmental features. Testing for HSD10 disease…
The NOTCH1 gene is a critical regulator of cell function in various health conditions. Abnormally variant cells that result from changes in this gene can lead to a wide range of disorders. The NOTCH1 gene is also known by other…
Andermann syndrome, also known as hereditary motor and sensory neuropathy with agenesis of the corpus callosum, is a rare genetic disorder that affects the peripheral nervous system. It is characterized by severe movement and sensory deficits, particularly in the limbs.…
The CHM gene is a genet that provides instructions for making a protein called Rab escort protein 1 (REP-1). This gene is located on the X chromosome. The CHM gene is expressed in many different tissues and plays a crucial…
Silver syndrome, also known as hereditary spastic paraplegia type 17 (HSP17), is a rare genetic condition that affects the movement of individuals. It is caused by mutations in certain genes, resulting in abnormalities in the neurons that control muscle movement.…
The ATP6V0A4 gene is an autosomal gene that plays a crucial role in the control of the v-type ATPase pump. Mutations in this gene have been associated with a variety of disorders, including sensorineural deafness, renal tubular acidosis, bone weakness,…
The FZD4 gene, also known as the frizzled class receptor 4 gene, codes for a protein that is involved in cell signaling pathways. This gene is associated with a number of genetic diseases, including familial exudative vitreoretinopathy (FEVR), a condition…
The COL9A3 gene is a gene that plays a critical role in the development and maintenance of intervertebral discs. Mutations in this gene can lead to various genetic disorders and diseases. One variant of the COL9A3 gene, which is listed…