The HNF1B gene, also known as TCF2, is a transcription factor that is associated with various conditions. HNF1B is located on chromosome 17q12 and encodes a protein called hepatocyte nuclear factor 1-beta. This gene plays a crucial role in the…
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…
Schizoaffective disorder is a mental health condition that combines features of both schizophrenia and mood disorders. It is considered to be a chronic condition that can cause significant impairment in daily functioning. The exact causes of schizoaffective disorder are unclear,…
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 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…
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…
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 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…
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 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,…