TYR

GPTKB entity

Statements (68)
Predicate Object
gptkbp:instance_of gptkb:DNA
gptkbp:associated_with albinism
gptkbp:code tyrosinase
gptkbp:discovered_by gptkb:Hermann_Joseph_Muller
gptkbp:diseases gptkb:Oculocutaneous_albinism_type_1
gptkbp:first_characterized_in 1930s
gptkbp:function catalyzes the conversion of tyrosine to DOPA
gptkbp:genetic_studies causes albinism
gptkbp:has_role hair color determination
gptkbp:has_variants SNPs
https://www.w3.org/2000/01/rdf-schema#label TYR
gptkbp:interacts_with gptkb:TYRP1
gptkbp:involved_in melanin biosynthesis
gptkbp:is_associated_with gptkb:neurodegenerative_diseases
chronic diseases
cardiovascular health
neurodevelopmental disorders
fertility issues
skin disorders
increased UV sensitivity
melanoma risk
gptkbp:is_essential_for normal vision
gptkbp:is_expressed_in gptkb:embryonic_development
placenta
lungs
adipose tissue
gastrointestinal tract
hair follicles
inner ear
melanocytes
retinal pigment epithelium
gptkbp:is_involved_in cell cycle regulation
cell differentiation
cell proliferation
cellular metabolism
immune response
neurotransmitter release
stress response
cell signaling pathways
oxidative stress response
cellular aging
cellular signaling
neurotransmitter synthesis
cellular repair mechanisms
neural crest development
hormonal signaling
cellular detoxification
immune system regulation
hormonal regulation of pigmentation
gptkbp:is_linked_to gptkb:Ophthalmology
metabolic disorders
cognitive function
metabolic syndrome
chronic inflammation
developmental disorders
skin cancer risk
endocrine function
pigmentary disorders
gptkbp:is_part_of gptkb:protein
gptkb:Biology
melanogenesis pathway
gptkbp:is_regulated_by micro RNAs
gptkbp:is_studied_in genetics research
gptkbp:is_targeted_at gptkb:gene_therapy
gptkbp:located_in human chromosome 11
gptkbp:related_to skin pigmentation
gptkbp:bfsParent gptkb:Tyrolean_Airways
gptkbp:bfsLayer 5