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SCN8A gene

Mature female doctor discussing medical report with nurses in hospital hallway. Senior general practitioner discussing patient case status with group of medical staff after surgery. Doctor working on digital tablet while in conversation with healthcare workers, copy space.

The SCN8A gene is one of many genes that are associated with epilepsy and other related disorders. Mutations in this gene can lead to changes in the normal functioning of nerve cells, resulting in recurrent…

Aromatic l-amino acid decarboxylase deficiency

Doctor talking to the patient about menopause and treatment in future.

Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition caused by a deficiency in the enzyme aromatic l-amino acid decarboxylase. This enzyme is responsible for the conversion of various amino acids into neurotransmitters, such…

PNKD gene

Shot of a surgeon looking at a monitor in an operating room

Pnkd gene is a gene responsible for the development of the paroxysmal nonkinesigenic dyskinesia (PNKD), a neurological disorder characterized by involuntary movements. The PNKD gene is located on chromosome 2q35 and it encodes a protein…

Chromosome 18

Shot of a scientist recording his findings on a digital tablet

The term “chromosome 18” refers to one of the 23 pairs of chromosomes in the human genome. Chromosomes are the molecular structures that carry genetic information in the form of genes. Each chromosome is made…

Skin Cancer Screening

The mid adult female doctor reviews her patient's records on her computer in her office.

Skin cancers are one of the most common types of cancers worldwide. Detecting them early is crucial for maintaining good health. Regular skin cancer screening is recommended to identify and treat any abnormal growths on…

TFAP2B gene

Portrait of confident young female pharmacist leaning to a medicine shelf with a digital tablet

The TFAP2B gene is a key regulator of gene expression and plays a crucial role in various biological processes. It is involved in the development and function of numerous tissues and organs, including the central…

ITGB3 gene

Doctor sitting at desk and writing a prescription for her patient

The ITGB3 gene is a gene that is only found in humans. It is located within the Glanzmann thrombasthenia (GT) blood clotting disorder. This gene is responsible for the production of the beta3 subunit of…

Chromosome 19

Portrait of secretary working at hospital reception

Chromosome 19 is one of the 23 pairs of chromosomes in humans. It is a relatively small chromosome, spanning about 58 million base pairs (the building blocks of DNA) and containing around 1,500 genes. Chromosome…

PCSK9 gene

Young female receptionist talking on phone in clinic while sitting and looking on pc monitor

The PCSK9 gene is a genetic variant that plays a crucial role in the regulation of cholesterol levels in the bloodstream. It provides instructions for making a protein known as proprotein convertase subtilisin/kexin type 9…

AIRE gene

Close-up of a male doctor hand hold a silver pen and showing pad in hospital. Doctor giving prescription to the patient and filling up medical form at a clipboard

The AIRE gene, also known as AutoImmune REgulator gene, is responsible for coding a protein that plays a crucial role in the development and function of the immune system. Mutations in this gene can lead…