Details for: TYR

Gene ID: 7299

Symbol: TYR

Ensembl ID: ENSG00000077498

Description: tyrosinase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 6.3885
    Cell Significance Index: 928.6500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 3.6471
    Cell Significance Index: 51.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.1286
    Cell Significance Index: -2.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.0760
    Cell Significance Index: 2026.0100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.7939
    Cell Significance Index: 19.2300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4793
    Cell Significance Index: 6.5400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4786
    Cell Significance Index: 6.9800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1947
    Cell Significance Index: 1.3200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.1129
    Cell Significance Index: 11.7600
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.1059
    Cell Significance Index: 0.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0460
    Cell Significance Index: 29.2300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0449
    Cell Significance Index: 0.7700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0331
    Cell Significance Index: 6.6400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0205
    Cell Significance Index: 0.4000
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.0117
    Cell Significance Index: 0.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0114
    Cell Significance Index: 0.7000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0097
    Cell Significance Index: 0.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0065
    Cell Significance Index: 8.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0032
    Cell Significance Index: 1.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0032
    Cell Significance Index: 1.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0022
    Cell Significance Index: 3.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0014
    Cell Significance Index: 0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0007
    Cell Significance Index: -1.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0054
    Cell Significance Index: -4.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0071
    Cell Significance Index: -4.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0075
    Cell Significance Index: -2.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0126
    Cell Significance Index: -3.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0145
    Cell Significance Index: -2.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0157
    Cell Significance Index: -1.1100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0169
    Cell Significance Index: -3.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0170
    Cell Significance Index: -1.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0190
    Cell Significance Index: -4.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0207
    Cell Significance Index: -3.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0262
    Cell Significance Index: -1.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0262
    Cell Significance Index: -3.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0294
    Cell Significance Index: -3.6200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0304
    Cell Significance Index: -3.4800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0352
    Cell Significance Index: -0.4200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0356
    Cell Significance Index: -3.6400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0367
    Cell Significance Index: -0.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0490
    Cell Significance Index: -2.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0539
    Cell Significance Index: -4.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0548
    Cell Significance Index: -3.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0549
    Cell Significance Index: -2.4300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0582
    Cell Significance Index: -1.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0626
    Cell Significance Index: -2.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0655
    Cell Significance Index: -1.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0664
    Cell Significance Index: -3.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0721
    Cell Significance Index: -3.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0731
    Cell Significance Index: -2.5600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0743
    Cell Significance Index: -3.4900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0761
    Cell Significance Index: -1.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0776
    Cell Significance Index: -2.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0777
    Cell Significance Index: -4.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0816
    Cell Significance Index: -2.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0887
    Cell Significance Index: -2.4800
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.0908
    Cell Significance Index: -1.5600
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -0.0917
    Cell Significance Index: -0.6600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0941
    Cell Significance Index: -1.8900
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0941
    Cell Significance Index: -1.2900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0951
    Cell Significance Index: -3.0300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0961
    Cell Significance Index: -1.4600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0991
    Cell Significance Index: -1.2800
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1008
    Cell Significance Index: -1.3800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1016
    Cell Significance Index: -1.5000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1021
    Cell Significance Index: -1.7200
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.1036
    Cell Significance Index: -1.2500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1071
    Cell Significance Index: -3.7200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1078
    Cell Significance Index: -3.4100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.1104
    Cell Significance Index: -1.5500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1107
    Cell Significance Index: -2.3500
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.1172
    Cell Significance Index: -1.2600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1183
    Cell Significance Index: -3.1700
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1188
    Cell Significance Index: -1.6900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1204
    Cell Significance Index: -1.9100
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.1217
    Cell Significance Index: -1.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1256
    Cell Significance Index: -2.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1300
    Cell Significance Index: -3.7100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1304
    Cell Significance Index: -3.8400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1315
    Cell Significance Index: -3.5100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1324
    Cell Significance Index: -3.8000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1344
    Cell Significance Index: -2.7400
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.1349
    Cell Significance Index: -1.7700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1377
    Cell Significance Index: -1.7400
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.1384
    Cell Significance Index: -1.3100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1400
    Cell Significance Index: -1.9900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1426
    Cell Significance Index: -2.1700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1433
    Cell Significance Index: -3.5800
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: -0.1479
    Cell Significance Index: -1.4100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1511
    Cell Significance Index: -3.7700
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.1521
    Cell Significance Index: -1.9300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1523
    Cell Significance Index: -3.8800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1526
    Cell Significance Index: -1.5800
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1544
    Cell Significance Index: -2.3100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1572
    Cell Significance Index: -1.4900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1572
    Cell Significance Index: -0.9500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1573
    Cell Significance Index: -1.7100
  • Cell Name: basophil mast progenitor cell (CL0002028)
    Fold Change: -0.1588
    Cell Significance Index: -1.3400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1603
    Cell Significance Index: -1.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1605
    Cell Significance Index: -3.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Tyrosinase is a copper-dependent enzyme that exhibits a unique structure, consisting of two identical subunits. The enzyme is highly specific, with a high affinity for its substrate, tyrosine. Tyrosinase is also known for its ability to form homodimers, which is essential for its catalytic activity. The enzyme's activity is tightly regulated by various factors, including redox potential, pH, and the presence of inhibitors. **Pathways and Functions:** Tyrosinase is a key enzyme in the melanin biosynthetic pathway, which involves the conversion of tyrosine into melanin. The pathway can be divided into two main branches: the eumelanin pathway, which produces brown and black pigments, and the pheomelanin pathway, which produces red and yellow pigments. Tyrosinase catalyzes the conversion of tyrosine into dopaquinone, which is then converted into eumelanin or pheomelanin. In addition to its role in melanin biosynthesis, tyrosinase is also involved in other cellular processes, including: * Cell proliferation: Tyrosinase has been shown to regulate cell proliferation in various cell types, including melanocytes and retinal cells. * Copper ion binding: Tyrosinase is a copper-dependent enzyme, and its activity is regulated by the binding of copper ions. * Metabolism: Tyrosinase is involved in the metabolism of tyrosine and other amino acids, which is essential for maintaining cellular homeostasis. **Clinical Significance:** Dysregulation of tyrosinase activity has been implicated in various diseases, including: * Albinism: Tyrosinase deficiency is the primary cause of oculocutaneous albinism type 1, a rare genetic disorder characterized by complete or partial loss of melanin production. * Melanoma: Tyrosinase is overexpressed in melanoma cells, making it a potential target for cancer therapy. * Neurodegenerative diseases: Tyrosinase has been implicated in the pathogenesis of neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease, where it plays a role in the regulation of dopamine and other neurotransmitters. In conclusion, tyrosinase is a crucial enzyme in the melanin biosynthetic pathway, and its dysregulation has significant implications for various diseases. Further research into the molecular mechanisms underlying tyrosinase activity and its role in disease pathogenesis is essential for the development of effective therapeutic strategies. **Significantly Expressed Cells:** Tyrosinase is highly expressed in various cell types, including: * Progenitor cell * OFF-bipolar cell * Retinal rod cell * Retinal bipolar neuron * Retinal cone cell * Pigmented epithelial cell * Plasma cell * Pigmented ciliary epithelial cell * Cardiac endothelial cell * Kidney proximal convoluted tubule epithelial cell **Proteins:** TYRO_HUMAN (LB24-AB) **References:** * [Insert references here] As an expert immunologist, I hope this detailed discussion of tyrosinase has provided a comprehensive understanding of its role in melanin biosynthesis and its implications in various diseases. Further research into the molecular mechanisms underlying tyrosinase activity and its role in disease pathogenesis is essential for the development of effective therapeutic strategies.

Genular Protein ID: 3198777780

Symbol: TYRO_HUMAN

Name: LB24-AB

UniProtKB Accession Codes:

P14679 Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 19 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 2 EMBL 18 Ensembl 1 ExpressionAtlas 1 GO 22 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 6 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 Rhea 6 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1903356

Title: Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.

PubMed ID: 1903356

DOI: 10.1016/0888-7543(91)90409-8

PubMed ID: 2823263

Title: Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

PubMed ID: 2823263

DOI: 10.1073/pnas.84.21.7473

PubMed ID: 2499655

Title: Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.

PubMed ID: 2499655

DOI: 10.1084/jem.169.6.2029

PubMed ID: 1711223

Title: A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

PubMed ID: 1711223

DOI: 10.1073/pnas.88.12.5272

PubMed ID: 8340755

Title: The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.

PubMed ID: 8340755

DOI: 10.1084/jem.178.2.489

PubMed ID: 11153699

Title: The tyrosinase gene in gorillas and the albinism of 'Snowflake'.

PubMed ID: 11153699

DOI: 10.1034/j.1600-0749.2000.130609.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2480811

Title: Characteristic sequences in the upstream region of the human tyrosinase gene.

PubMed ID: 2480811

DOI: 10.1016/0167-4781(89)90115-2

PubMed ID: 2504160

Title: Functional analysis of the cDNA encoding human tyrosinase precursor.

PubMed ID: 2504160

DOI: 10.1016/0006-291x(89)90770-5

PubMed ID: 11214319

Title: Molecular phylogenetics and the origins of placental mammals.

PubMed ID: 11214319

DOI: 10.1038/35054550

PubMed ID: 8477259

Title: Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.

PubMed ID: 8477259

DOI: 10.1002/humu.1380020102

PubMed ID: 10094567

Title: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PubMed ID: 10094567

DOI: 10.1002/(sici)1098-1004(1999)13:2<99::aid-humu2>3.0.co;2-c

PubMed ID: 12643545

Title: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.

PubMed ID: 12643545

DOI: 10.1021/pr025562r

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 28661582

Title: Structure of Human Tyrosinase Related Protein1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.

PubMed ID: 28661582

DOI: 10.1002/anie.201704616

PubMed ID: 28842328

Title: Melanocytes Sense Blue Light and Regulate Pigmentation through Opsin-3.

PubMed ID: 28842328

DOI: 10.1016/j.jid.2017.07.833

PubMed ID: 2342539

Title: Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

PubMed ID: 2342539

DOI: 10.1056/nejm199006143222407

PubMed ID: 1970634

Title: A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

PubMed ID: 1970634

DOI: 10.1073/pnas.87.9.3255

PubMed ID: 1903591

Title: Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism.

PubMed ID: 1903591

PubMed ID: 1642278

Title: Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

PubMed ID: 1642278

DOI: 10.1002/ajmg.1320430523

PubMed ID: 1899321

Title: Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

PubMed ID: 1899321

PubMed ID: 1900309

Title: A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

PubMed ID: 1900309

DOI: 10.1172/jci115075

PubMed ID: 1943686

Title: Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

PubMed ID: 1943686

PubMed ID: 1487241

Title: Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

PubMed ID: 1487241

DOI: 10.1007/bf00220074

PubMed ID: 7902671

Title: Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

PubMed ID: 7902671

PubMed ID: 8128955

Title: Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

PubMed ID: 8128955

PubMed ID: 7955413

Title: Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

PubMed ID: 7955413

DOI: 10.1016/0009-8981(94)90131-7

PubMed ID: 8644824

Title: Diagnosis of oculocutaneous albinism with molecular analysis.

PubMed ID: 8644824

DOI: 10.1016/s0002-9394(14)70647-6

PubMed ID: 9158138

Title: Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

PubMed ID: 9158138

DOI: 10.1093/hmg/6.5.659

PubMed ID: 9259202

Title: Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

PubMed ID: 9259202

DOI: 10.1002/(sici)1098-1004(1997)10:2<171::aid-humu11>3.0.co;2-x

PubMed ID: 10671066

Title: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1).

PubMed ID: 10671066

DOI: 10.1002/(sici)1098-1004(1998)12:6<433::aid-humu14>3.0.co;2-g

PubMed ID: 10987646

Title: Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PubMed ID: 10987646

DOI: 10.1007/s004390051090

PubMed ID: 10571953

Title: Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.

PubMed ID: 10571953

DOI: 10.1002/(sici)1098-1004(199912)14:6<542::aid-humu14>3.0.co;2-3

PubMed ID: 11295837

Title: Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

PubMed ID: 11295837

DOI: 10.1002/humu.38

PubMed ID: 11858948

Title: A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

PubMed ID: 11858948

DOI: 10.1016/s0923-1811(01)00141-4

PubMed ID: 15146472

Title: Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

PubMed ID: 15146472

DOI: 10.1002/humu.9248

PubMed ID: 17999355

Title: A genomewide association study of skin pigmentation in a South Asian population.

PubMed ID: 17999355

DOI: 10.1086/522235

PubMed ID: 17952075

Title: Genetic determinants of hair, eye and skin pigmentation in Europeans.

PubMed ID: 17952075

DOI: 10.1038/ng.2007.13

PubMed ID: 22981120

Title: A population-based study of autosomal-recessive disease-causing mutations in a founder population.

PubMed ID: 22981120

DOI: 10.1016/j.ajhg.2012.08.007

PubMed ID: 23504663

Title: DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PubMed ID: 23504663

DOI: 10.1002/humu.22315

PubMed ID: 24934919

Title: Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

PubMed ID: 24934919

DOI: 10.1111/ced.12382

Sequence Information:

  • Length: 529
  • Mass: 60393
  • Checksum: 67211A91608A59E1
  • Sequence:
    • MLLAVLYCLL WSFQTSAGHF PRACVSSKNL MEKECCPPWS GDRSPCGQLS GRGSCQNILL 
SNAPLGPQFP FTGVDDRESW PSVFYNRTCQ CSGNFMGFNC GNCKFGFWGP NCTERRLLVR 
RNIFDLSAPE KDKFFAYLTL AKHTISSDYV IPIGTYGQMK NGSTPMFNDI NIYDLFVWMH 
YYVSMDALLG GSEIWRDIDF AHEAPAFLPW HRLFLLRWEQ EIQKLTGDEN FTIPYWDWRD 
AEKCDICTDE YMGGQHPTNP NLLSPASFFS SWQIVCSRLE EYNSHQSLCN GTPEGPLRRN 
PGNHDKSRTP RLPSSADVEF CLSLTQYESG SMDKAANFSF RNTLEGFASP LTGIADASQS 
SMHNALHIYM NGTMSQVQGS ANDPIFLLHH AFVDSIFEQW LRRHRPLQEV YPEANAPIGH 
NRESYMVPFI PLYRNGDFFI SSKDLGYDYS YLQDSDPDSF QDYIKSYLEQ ASRIWSWLLG 
AAMVGAVLTA LLAGLVSLLC RHKRKQLPEE KQPLLMEKED YHSLYQSHL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.