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TYR Gene

protein-coding GIFtS: 67

GC11P088911

tyrosinase (oculocutaneous albinism IA)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
tyrosinase (oculocutaneous albinism IA)¹ ²		SK29-AB² ³
OCAIA¹ ²		SHEP3² ⁵
Monophenol monooxygenase² ³		tyrosinase²
Tumor rejection antigen AB² ³		OCA1A²
LB24-AB² ³		EC 1.14.18.1³

External Ids:	HGNC: 12442¹	Entrez Gene: 7299²	Ensembl: ENSG00000077498⁷	UniProtKB: P14679³

Search outside databases for aliases for TYR gene

Previous GC identifers: GC11P091234 GC11P090457 GC11P089095 GC11P088598 GC11P088550

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TYR:

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of

tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires

copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result

in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene.

(provided by RefSeq)

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other

polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly

5,6-dihydroxyindole to indole-5,6 quinone

Gene Wiki entry for TYR (Tyrosinase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TYR gene upstream (promoter) region

:
STAT3 STAT5A STAT1 STAT1alpha STAT1beta Sox9 p53 CUTL1 GR-alpha Bach1

Epigenetics:

Search SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for TYR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14-q21 Ensembl cytogenetic band: 11q14.3 HGNC cytogenetic band: 11q14-q21

TYR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P088911: view genomic region (about GC identifiers)

Start:	88,911,040 bp from pter
End:	89,028,927 bp from pter
Size:	117,888 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000011.9 NT_167190.1

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679 (See protein sequence)

Recommended Name: Tyrosinase precursor

Size: 529 amino acids; 60393 Da

Cofactor: Binds 2 copper ions per subunit

Subcellular location: Melanosome membrane; Single-pass type I membrane protein

Sequence caution: Sequence=AAA61241.1; Type=Erroneous initiation; Sequence=CAA68756.1; Type=Erroneous initiation;

Secondary accessions: Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1

Alternative splicing: 2 isoforms: P14679-1 P14679-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000363.1

ENSEMBL proteins:

ENSP00000263321

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for TYR
	HuPro® and/or Recombinant Proteins from Abnova for TYR
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Protein for TYR
	Novus Biologicals Lysate for TYR
	Browse Sino Biological Recombinant Proteins

5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	11092760
GO:0005764	lysosome	TAS	11092760
GO:0005798	Golgi-associated vesicle	TAS	10823941
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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TYR for ontologies About GeneDecksing

Antibodies for TYR:

	Millipore Mono- and Polyclonal Antibodies for the study of TYR
	Sigma-Aldrich Antibodies for TYR
	Browse R&D Systems for Antibodies
	Monoclonal and Polyclonal Antibodies from Abnova (TYR)
	Origene Antibodies: TYR
	Novus Biologicals Antibodies for TYR
	Epitomics antibodies for TYR

Assays for TYR:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Enzo Life Sciences assays for TYR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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TYR for domains About GeneDecksing

2 InterPro domains/families:

IPR008922 Di-copper_centre

IPR002227 Tyrosinase

Graphical View of Domain Structure for InterPro Entry P14679

ProtoNet protein and cluster: P14679

1 Blocks protein family: IPB002227 Tyrosinase copper-binding domain signature

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Similarity: Belongs to the tyrosinase family

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TYR)
		Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): TYR Origene shRNA RFP (see all 2): TYR Origene basic RS shRNA (see all 2): TYR
		Applied Biosystems Silencer® siRNAs for TYR
		Sigma-Aldrich siRNA Panels and siRNA for TYR Sigma-Aldrich shRNA for TYR Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: TYR Origene Myc/DDK tagged cDNA clones in CMV expression vector: TYR Origene untagged cDNA clones in CMV expression vector (see all 2): TYR
		Browse Sino Biological Human cDNA Clones

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other

polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly

5,6-dihydroxyindole to indole-5,6 quinone

Catalytic activity: L-tyrosine + L-dopa + O(2) = L-dopa + dopaquinone + H(2)O

Induction: Increased expression after UV-B radiation

Enzyme Number (IUBMB): EC 1.14.18.1

Genatlas biochemistry entry for TYR:

tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production

5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IEA	--
GO:0004503	monophenol monooxygenase activity	IDA	11092760
GO:0005507	copper ion binding	IMP	11092760
GO:0005515	protein binding	ISS	--
GO:0016491	oxidoreductase activity	--	--

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TYR for ontologies About GeneDecksing

Animal Models: 15/16 MGI mutant phenotypes (inferred from 104 alleles) (MGI details for Tyr) (see all 16 ):

behavior/neurological	cardiovascular system	cellular	embryogenesis	growth/size
homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail
nervous system	no phenotypic analysis	pigmentation	skeleton	skin/coat/nails

TYR for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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TYR for pathways About GeneDecksing

2 Millipore Pathways for TYR

	Tyrosine metabolism p.1 (dopamine)
	Selected targets of HNF1

4 Sigma-Aldrich "Your Favorite Gene" Pathways for TYR (Your Favorite Gene powered by Ingenuity)

	Riboflavin Metabolism
	Tyrosine Metabolism
	Stilbene, Coumarine and Lignin Biosynthesis
	Melanocyte Development and Pigmentation Signaling

4 Kegg Pathways (Kegg details for TYR):

	hsa00350 Tyrosine metabolism
	hsa00740 Riboflavin metabolism
	hsa01100 Metabolic pathways
	hsa04916 Melanogenesis

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TYR

5/18 Interacting proteins for TYR (ENSP00000263321³) via UniProtKB, MINT, and/or STRING (see all 18 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABP1	ENSP00000373621³	STRING: ENSP00000373621
DCT	ENSP00000366227³	STRING: ENSP00000366227
DDC	ENSP00000339928³	STRING: ENSP00000339928
MAOA	ENSP00000340684³	STRING: ENSP00000340684
MAOB	ENSP00000367309³	STRING: ENSP00000367309

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5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006583	melanin biosynthetic process from tyrosine	TAS	7704033
GO:0006726	eye pigment biosynthetic process	TAS	7704033
GO:0007601	visual perception	TAS	7704033
GO:0008152	metabolic process	--	--
GO:0055114	oxidation reduction	IEA	--

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TYR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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TYR for compounds About GeneDecksing

Enzo Life Sciences drugs & compounds for TYR

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TYR
10/1009 Novoseek chemical compound relationships for TYR gene (see all 1009 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	100.00	466	2497448 (7), 1899343 (5), 15027806 (5), 8054656 (4) (see all 100)
dopachrome	100.00	132	8610070 (3), 8429235 (3), 8126111 (3), 8006449 (3) (see all 100)
dopaquinone	100.00	59	16527255 (3), 8433004 (2), 17685382 (2), 10952395 (2) (see all 54)
dopa	100.00	218	6776205 (5), 9500997 (4), 11124258 (4), 8224374 (3) (see all 100)
catechol	100.00	126	8399395 (4), 9589603 (3), 6430238 (3), 9511473 (2) (see all 100)
kojic acid	100.00	88	19884780 (3), 19700313 (3), 10630104 (3), 9523332 (2) (see all 70)
l dopa	100.00	282	8112501 (5), 2497448 (4), 17454565 (4), 11136730 (4) (see all 100)
phenol	94.98	147	813570 (4), 19067557 (3), 18968331 (3), 15932262 (3) (see all 100)
arbutin	94.01	55	9523330 (4), 8632348 (4), 1920891 (3), 12843585 (3) (see all 36)
eumelanin	82.87	55	7686498 (5), 3098884 (3), 3084696 (3), 2502579 (2) (see all 39)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TYR)
		Applied Biosystems Silencer® siRNAs: NM_000372
		Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): TYR Origene shRNA RFP (see all 2): TYR Origene basic RS shRNA (see all 2): TYR
		Sigma-Aldrich siRNA Panels and siRNA for TYR Sigma-Aldrich shRNA for TYR Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:

Search SABiosciences for microRNAs that regulate TYR:

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000372

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: TYR
Origene Myc/DDK tagged cDNA clones in CMV expression vector: TYR
Origene untagged cDNA clones in CMV expression vector (see all 2): TYR

Primers:		Origene genome-wide validated SYBR primer pairs: TYR
		SABiosciences RT2 qPCR Primer Assay for TYR: PPH01771A

REFSEQ mRNAs for TYR gene:

NM_000372.4

Additional cDNA sequence:

BC027179.1 J03581.1 M27160.1 M74314.1 S66645.1 U01873.1 Y00819.1

1 DOTS entry:

DT.113443

24/69 AceView cDNA sequences (see all 69 ):

U01873 BQ439755 BU190117 NM_000372 BU191334 BM453335 BU154819 BQ678960

CA396680 BU732939 BU156904 BQ424558 M27160 BG575202 S66645 BU183039

N36237 BE893561 CA391457 H96875 BV203112 BM469940 BI859609 BE896250

highest scoring ESTs for TYR:

M27160 AI221879 AI969687 BG182829 BG183341 BG574431 BG576440 BM712704 BQ677071 BU179860

Unigene Cluster for TYR:

Tyrosinase (oculocutaneous albinism IA)

Hs.503555 [show with all ESTs]

Unigene Representative Sequence: M27160

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000263321

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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TYR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TYR

¹ / ² / ³

7 probe-sets matching TYR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38927_i_at²^{, 3}	U95-A	2	0.85	0.91	0.74	0.33	M27160	1.00	1.00	1.00	1
34155_s_at²^{, 3}	U95-A	2	0.75	0.92	0.25	0.33	M63241	0.20	1.00	0.72	1
38928_r_at²^{, 3}	U95-A	2	0.75	0.82	1.00	1.00	M27160	1.00	1.00	1.00	1
206630_at²^{, 3}	U133-A	2	0.82	0.85	--	--	NM_000372	0.60	1.00	0.82	1
1555505_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206630_at²	U133Plus2	2	0.82	0.85	--	--	--	--	--	--	--
1555504_at²	U133Plus2	1	0.36	1.00	--	--	--	--	--	--	--

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TYR for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: GAGAAAGAGG

SOURCE GeneReport for Unigene cluster: Hs.503555

Expression variation in blood from EXPOLDB for TYR

Primers:		Origene genome-wide validated SYBR primer pairs: TYR
		SABiosciences RT2 qPCR Primer Assay for TYR: PPH01771A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for TYR gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TYR¹	--	tyrosinase (oculocutaneous albinism IA)	89.29(n) 88.47(a)	403405 XM_850453.1 XP_855546.1
chimpanzee (Pan troglodytes)	TYR¹	--	tyrosinase (oculocutaneous albinism IA)	99.62(n) 99.62(a)	451473 XM_001136041.1 XP_001136041.1
cow (Bos taurus)	TYR¹	--	tyrosinase	86.2(n) 87.15(a)	280951 NM_181001.2 NP_851344.1
rat (Rattus norvegicus)	Tyr¹	--	tyrosinase	83.68(n) 87.33(a)	308800 XM_238901.4 XP_238901.2
mouse (Mus musculus)	Tyr^{1, 5}	7 (44.00 cM)⁵	tyrosinase^{1, 5}	84.06(n)¹ 86.39(a)¹	22173¹ NM_011661.2¹ NP_035791.1¹ AK014619⁵ AK148172⁵ (see all 19)

About this table Species with no ortholog for TYR

ENSEMBL Gene Tree for TYR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for TYR gene

TYRL² TYRP1² DCT²

TYR for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Polymorphism: Genetic variations in TYR are associated with skin/hair/eye pigmentation type 3 (SHEP3) [MIM:601800].

Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal

range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter

pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair

color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and

black hair

Polymorphism: Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of

autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular

albinism (WS2-OA) in association with a deletion in the MITF gene

10/103 NCBI SNPs in TYR are shown (see all 103 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 163)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs1799989^1,2	C,F,A	85151339(+)	`CAATTC/AGAAAG`	1	--	ng5¹		20	NA NS EA WA	2444
	rs4547091^1,2	C,F,A	85151237(+)	`ACTAAT/CCTTAT`	1	--	ng5¹		8	NA EA WA	348
	rs1042602^1,2	C,F	88911696(+)	`GGGATC/ATGAAA`	2	/Y /S	mis¹ ref¹		28	MN CSA EU CSAM NA NS EA	2334
--	rs1042608^1,2	C,H	88924473(+)	`ATCCAG/CAACCC`	2	/T /R	mis¹ ref¹ ese³		10	MN NS EA	1004
--	rs1126809^1,2	C,F	89017961(+)	`GCTCCG/AAAGGC`	2	/Q /R	mis¹ ref¹		15	NA MN NS EA	1150
--	rs1939260^1,2	C,F	88911299(-)	`GGACAG/AAAGGA`	2	/L	ref¹ syn¹		2	EA WA	224
--	rs1800421^1,2	C	88961019(+)	`ATAGCG/AGATGC`	2	/A	syn¹ ref¹		1	EA	172
--	rs1939261^1,2	C	88911235(-)	`CTCCAC/TGGTGG`	2	P	syn¹ ref¹ ese³		2	MN EA	358
--	rs2186640^1,2	C,F,O,A,H	85213170(+)	`GTCAGC/GGTGTT`	1	--	int¹		10	NS EA NA	840
--	rs501301^1,2	C,F,O,A,H	85259608(-)	`AAAGGG/CATCAT`	1	--	int¹		19	EA NA NS	1402

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HapMap Linkage Disequilibrium images for TYR (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for TYR
7 CNVs: 85905 66023 5639 75737 6951 53361 43540

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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TYR for disorders About GeneDecksing

OMIM: 606933 disorders: 203100 103470 606952 601800

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Defects in TYR are the cause of albinism oculocutaneous type 1A (OCA1A) [MIM:203100]; also known as tyrosinase

negative oculocutaneous albinism. 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

Defects in TYR are the cause of albinism oculocutaneous type 1B (OCA1B) [MIM:606952]; also known as albinism

yellow mutant type. 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

10/267 Novoseek disease relationships for TYR gene (see all 267 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
albino	100.00	316	16573534 (7), 17655555 (5), 10685888 (5), 9431801 (4) (see all 100)
melanoma	100.00	1328	8722221 (8), 803870 (6), 7667256 (6), 3117484 (6) (see all 100)
oculocutaneous albinism	100.00	141	7902671 (4), 1642278 (4), 15381243 (4), 13680365 (4) (see all 93)
oca	100.00	75	9170165 (4), 8618053 (3), 7617575 (3), 1409445 (3) (see all 50)
amelanotic melanoma	70.47	47	16585201 (3), 9177196 (2), 7761345 (2), 6779849 (2) (see all 38)
microphthalmia	67.72	60	9700169 (5), 11145253 (4), 8707852 (3), 8643993 (3) (see all 40)
vitiligo	60.57	73	9204957 (7), 10206048 (7), 10469315 (5), 8697641 (4) (see all 33)
depigmentation	36.35	36	8347136 (3), 7577578 (2), 16462895 (2), 9496661 (1) (see all 32)
melanoma metastatic	35.91	49	11092039 (3), 10971051 (3), 16252260 (2), 16179868 (2) (see all 42)
albinism, tyrosinase-positive	34.02	13	8901188 (1), 8274781 (1), 822741 (1), 7901045 (1) (see all 13)

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GeneTests: TYR

Oculocutaneous Albinism Type 1

Locus Specific Mutation Databases: TYR
Human Gene Mutation Database: TYR
Genetic Association Database: TYR
Human Genome Epidemiology Navigator: TYR (154 documents)

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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1461 PubMed articles for TYR gene (see all 1461 ):

Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (PubMed id 1903591)^{1, 3, 4, 6} Giebel L.B.... Spritz R.A. (1991)
The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PubMed id 11153699)^{1, 3, 4} Martinez-Arias R.... Bertranpetit J. (2000)
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). (PubMed id 7902671)^{1, 3, 4} Tripathi R.K.... Spritz R.A. (1993)
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (PubMed id 1642278)^{1, 3, 4} Tripathi R.K.... Spritz R.A. (1992)
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. (PubMed id 10987646)^{1, 3, 4} Passmore L.A.... Weber B.H.F. (1999)
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. (PubMed id 7704033)^{1, 3, 6} Fukai K....Spritz R.A. (1995)
Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA. (PubMed id 2499655)^{1, 3, 4} Bouchard B.... Houghton A.N. (1989)
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. (PubMed id 8477259)^{1, 3, 4} Oetting W.S. and King R.A. (1993)
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. (PubMed id 1487241)^{1, 3, 4} Oetting W.S. and King R.A. (1992)
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (PubMed id 1899321)^{1, 3, 4} Spritz R.A.... Francke U. (1991)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7299	HGNC: 12442	AceView: TYR	Ensembl:ENSG00000077498	euGenes: HUgn7299
ECgene: TYR	Kegg: 7299	H-InvDB: TYR

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
ATLAS Chromosomes in Cancer entry for TYR	Genetics and Cytogenetics in Oncology and Haematology
Mutations of the TYR gene	http://www.retina-international.com/sci-news/tyrmut.htm
Albinism database (ADB)	http://albinismdb.med.umn.edu/oca1mut.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYR
Protein Spotlight	http://www.expasy.org/spotlight/back_issues/sptlt049.shtml
Wikipedia	http://en.wikipedia.org/wiki/Tyrosinase

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TYR Gene

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