TYR
Description
The TYR gene, located on chromosome 11, holds the blueprint for the enzyme tyrosinase. This enzyme is crucial for the production of melanin, the pigment responsible for skin, hair, and eye color. Tyrosinase catalyzes the initial steps in melanin synthesis, converting tyrosine to DOPAquinone, which ultimately leads to the formation of eumelanin (brown/black pigment) and pheomelanin (red/yellow pigment). Variations in the TYR gene can influence melanin production, affecting pigmentation and susceptibility to certain conditions.
Associated Diseases
- Albinism (OCA1A, OCA1B, OCA1C): Complete or partial absence of melanin due to mutations in the TYR gene.
- Oculocutaneous Albinism (OCA): A group of genetic disorders characterized by reduced melanin production, leading to light skin, hair, and eyes.
- Melanoma: Although not directly caused by TYR gene mutations, variations in the gene have been linked to increased risk of melanoma, a type of skin cancer.
Did you know?
The TYR gene‘s role in pigmentation is evident in animals too. For example, Siamese cats have a mutation in the TYR gene that reduces tyrosinase activity, leading to their distinctive darker coloration in cooler areas of their body.
