Tirosinasa

Tirosinasa
Identifikatzaileak
Aliasak	TYR (HUGO), tyrosinase, monophenol oxygenase, monophenol oxidase, monophenolase, monophenol, dihydroxy-L-phenylalanine oxygen oxidoreductase, monophenol monooxidase, polyaromatic oxidase, monophenol,L-dopa:oxygen oxidoreductase, L-tyrosine monooxygenase, monophenol dihydroxyphenylalanine:oxygen oxidoreductase, N-acetyl-6-hydroxytryptophan oxidase, tyrosine-dopa oxidase, polyphenolase, ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3, Tyrosinase
Kanpoko IDak	OMIM: 606933 MGI: 98880 HomoloGene: 30969 GeneCards: TYR OMA: TYR - orthologs
Genetikoki lotutako gaixotasunak
	age related macular degeneration , melanoma, bitiligo, oculocutaneous albinism type 1 , temperature-sensitive oculocutaneous albinism type 1
Genearen kokapena (gizakia)
	Kromosoma: 11 (gizakia)
Amaiera	89.295.759 bp
Genearen kokapena (sagua)
	Kromosoma: 7 (sagua)
Amaiera	87.142.720 bp
RNA adierazpen eredua
	Adierazpen ohikoena
	retinal pigment epithelium ; ; Barrabil; ; skin of thigh ; ; skin of abdomen ; ; Orpazurda; ; giza zakil; ; Alu; ; Descending thoracic aorta ; ; ascending aorta ; ; ganglionic eminence ;
	Adierazpen ohikoena
	Iris; ; Ile-folikulu; ; stria vascularis ; ; gorputz ziliar; ; retinal pigment epithelium ; ; lumbar subsegment of spinal cord ; ; Gastrula; ; kornea; ; epithelium of lens ; ; Utrikulu;
	Erreferentziazko adierazpen datu gehiago
	Erreferentziazko adierazpen datu gehiago
Gene ontologia
Funtzio molekularra	metal ion binding ; copper ion binding ; monooxygenase activity ; protein homodimerization activity ; oxidoreductase activity ; protein heterodimerization activity ; proteina lotura ; Polyphenol oxidase ; tyrosinase activity ;
Zelularen osagaia	zitoplasma ; zelula-mintzaren osagai integrala ; zitosol ; zelula nukleo ; mintza ; perinuclear region of cytoplasm ; Lisosoma ; melanosome membrane ; Golgi-associated vesicle ; melanosoma ; intracellular membrane-bounded organelle ;
Prozesu biologikoa	response to UV ; response to cAMP ; metabolismo ; melanin biosynthetic process from tyrosine ; response to vitamin D ; pigmentazio ; thymus development ; eye pigment biosynthetic process ; cell population proliferation ; ikusmen ; melanin biosynthetic process ;
	Iturburuak: : Amigo / QuickGO
Ortologoak
	7299
	22173
	ENSG00000077498
	ENSMUSG00000004651
	P14679
	P11344
	NM_000372
	NM_011661; NM_001317397
	NP_000363
	NP_001304326; NP_035791
	Wikidata
Ikusi/Editatu giza genea	Ikusi/Editatu saguaren genea

Tirosinasa (monofenol monooxigenasa) fenolen oxidazioa katalizatzen duen entzima bat da (tirosina bezala) eta landare eta animalietan hedatua dago. Tirosinasa landare eta animalien ehunetan dagoen entzima kuprifero bat da, oxidazio bidez melanina eta tirosinaren beste pigmentu batzuen ekoizpena katalizatzen duena.

Pertsona baten tirosinasaren genea mutatzen denean, albinismoa du, 20.000 pertsonatik batek pairatzen duen gaixotasun hereditarioa.^[6]

Erreferentziak

↑ Genetikoki lotutako gaixotasunak Tirosinasaikusi/editatu erreferentziak Wikidatan. .
↑ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000077498 - Ensembl, May 2017
↑ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004651 – Ensembl, May 2017
↑ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Witkop, CJ. (1979ko urria). «Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism» The Alabama Journal of Medical Sciences 16 (4): 327–30. PMID 546241..

Kanpo estekak

Datuak: Q85942926
Multimedia: Tyrosinase / Q85942926

[1] Genetikoki lotutako gaixotasunak Tirosinasaikusi/editatu erreferentziak Wikidatan. .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000077498 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000004651 – Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid546241-6] Witkop, CJ. (1979ko urria). «Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism» The Alabama Journal of Medical Sciences 16 (4): 327–30. PMID 546241..

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