full name
tyrosinase

synonyms
CMM8, OCA1A, OCAIA, SHEP3, TYR, ENSG00000077498

HGNC
HGNC:12442

Entrez Gene
Gene:7299

ENSEMBL
ENSG00000077498

location
chr: 11
start: 88911040
stop: 89028927
strand: +

OMIM
OMIM:606933: TYR (Autosomal recessive inheritance)
OMIM:203100: Albinism, oculocutaneous, type IA
OMIM:606952: Albinism, oculocutaneous, type IB
OMIM:103470: Waardenburg syndrome/albinism, digenic
OMIM:601800: [Skin/hair/eye pigmentation 3, blue/green eyes]
OMIM:601800: [Skin/hair/eye pigmentation 3, light/dark/freckling skin]
OMIM:601800: {Melanoma, cutaneous malignant, susceptibility to, 8}

transcripts
NM_000372.4

pathways
(S)-reticuline biosynthesis [NCBI:547499] [BIOCYC:HUMAN_PWY-6133] [PUBMED:15383669] [PUBMED:15937106]
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenaline [NCBI:413357] [KEGG:hsa_M00042]
L-dopachrome biosynthesis [NCBI:545322] [BIOCYC:HUMAN_PWY-6481] [PUBMED:10820445]
Melanin biosynthesis [NCBI:1270185] [REACTOME:R-HSA-5662702] [PUBMED:18435614] [PUBMED:23710556]
Melanogenesis [NCBI:83092] [KEGG:hsa04916] [PUBMED:11041354] [PUBMED:10347209] [PUBMED:15016298] [PUBMED:11023702] [PUBMED:11602344] [PUBMED:12753399] [PUBMED:10841026] [PUBMED:16822996] [PUBMED:15383650] [PUBMED:9263329] [PUBMED:16246839] [PUBMED:10643996] [PUBMED:12894244]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Tyrosine metabolism [NCBI:82959] [KEGG:hsa00350] [PUBMED:8550403] [PUBMED:1194238] [PUBMED:11171088] [PUBMED:18435614]