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
|