Tyrosinase
GeneName
TYR
Summary
TYR, also known as tyrosinase or Tyro, is a 60kDa copper-containing enzyme predominantly expressed in melanocytes and involved in the biosynthesis of melanin. It is localised in various cellular compartments, including the cytoplasm, melanosomes, and lysosomes, where it catalyses the conversion of tyrosine to DOPA and subsequently to dopaquinone, essential steps in melanin production. TYR plays a critical role in pigmentation processes, influencing not only skin and hair colour but also eye pigmentation. Additionally, it is implicated in cellular responses to environmental stimuli such as blue light and UV radiation.
Importance
TYR is relevant to: - Understanding pigmentation disorders, such as albinism and vitiligo, which arise from mutations in the TYR gene affecting melanin production. - Investigating melanoma and other skin cancers, as TYR activity is linked to melanocyte proliferation and differentiation. - Exploring the role of melanin in protecting against UV damage and its implications for skin health. - Studying the effects of environmental factors on pigmentation and visual perception, particularly in response to light and hormonal changes.
Top Products
For researchers investigating TYR, we highly recommend the top-selling recombinant antibody, Anti-Tyrosinase antibody [EPR10141] (ab170905). This well-cited product has garnered 30 citations, reflecting its reliability and trust within the research community. It has been validated for use in several applications, including Western blotting (WB), immunohistochemistry (IHC), immunocytochemistry (ICC), and flow cytometry (FC). The recombinant nature of this antibody ensures batch-to-batch consistency, making it an excellent choice for those requiring dependable TYR detection in their studies.
Abcam Product Citation Summary
The data indicates that the TYR gene, which is associated with pigmentation, was investigated in human UACC-62 cells using Abcam antibody ab170905 in a western blotting application. This suggests a focus on understanding the expression of pigmentation-related genes.
Abcam Product Citation Table
Function
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582).
Involvement in disease
Albinism, oculocutaneous, 1A
OCA1A
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
None
The disease is caused by variants affecting the gene represented in this entry.
Albinism, oculocutaneous, 1B
OCA1B
An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the tyrosinase family.
Cellular localization
- Melanosome membrane
- Single-pass type I membrane protein
- Melanosome
- Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.
Alternative names
Tyrosinase, LB24-AB, Monophenol monooxygenase, SK29-AB, Tumor rejection antigen AB, TYR