Gene: LOC107984363

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TYR

Alternate names for this Gene: ATN|CMM8|OCA1|OCA1A|OCAIA|SHEP3

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.3

Description of this Gene: tyrosinase

Type of Gene: protein-coding

rs104894314 in LOC107984363;TYR gene and ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 1900309 1991 A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

rs104894314 in LOC107984363;TYR gene and Albinism, Oculocutaneous PMID 1903591 1991 In the third patient, type IB OCA results from compound heterozygosity for the same type IB allele (codon 275 Val----Phe) and a novel type IB OCA allele.

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 7704033 1995 Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

PMID 24721949 2015 A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

PMID 16170149 2005 Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

PMID 22294196 2012 Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

PMID 25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PMID 15381243 2004 Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

PMID 28629449 2017 Delineating the genetic heterogeneity of OCA in Hungarian patients.

PMID 28266639 2017 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

PMID 9163730 1997 Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.

PMID 28451379 2017 Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 16056219 2005 Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

PMID 22042571 2012 Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.

PMID 7902671 1993 Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

PMID 15635296 2004 Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.

PMID 23324268 2013 Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

PMID 22734612 2012 Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.

PMID 20806075 2010 Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

rs1126809 in LOC107984363;TYR gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

rs1126809 in LOC107984363;TYR gene and Basal Cell Neoplasm PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1126809 in LOC107984363;TYR gene and Basal cell carcinoma PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1393350 in LOC107984363;TYR gene and Eye Color PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.

rs1042602 in LOC107984363;TYR gene and Freckles PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.

rs1042602 in LOC107984363;TYR gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs1042602 in LOC107984363;TYR gene and Melanosis PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.

rs1393350 in LOC107984363;TYR gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs796051880 in LOC107984363;TYR gene and Oculocutaneous albinism type 1 PMID 26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

rs104894314 in LOC107984363;TYR gene and Oculocutaneous albinism type 1A PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

PMID 24934919 2014 Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

PMID 1899321 1991 Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

PMID 10671066 1998 Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.

PMID 15146472 2004 Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

PMID 22981120 2012 A population-based study of autosomal-recessive disease-causing mutations in a founder population.

PMID 1642278 1992 Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

PMID 10571953 1999 Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

PMID 2342539 1990 Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

PMID 1943686 1991 Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 11858948 2002 A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

PMID 11295837 2001 Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

PMID 7902671 1993 Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

PMID 1487241 1992 Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

PMID 8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.

PMID 9259202 1997 Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

PMID 7955413 1994 Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

PMID 22294196 2012 Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

PMID 25703744 2015 Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

PMID 22042571 2012 Molecular analysis of Korean patients with oculocutaneous albinism.

PMID 2113511 1990 Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

rs1042602 in LOC107984363;TYR gene and Skin Pigmentation PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.

rs1126809 in LOC107984363;TYR gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1126809 in LOC107984363;TYR gene and Squamous cell carcinoma of skin PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

rs1126809 in LOC107984363;TYR gene and Suntan PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

PMID 19340012 2009 Genome-wide association study of tanning phenotype in a population of European ancestry.

rs1042602 in LOC107984363;TYR gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs1126809 in LOC107984363;TYR gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

PMID 21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

rs1126809 in LOC107984363;TYR gene and melanoma PMID 24980573 2014 Identification of a melanoma susceptibility locus and somatic mutation in TET2.

PMID 19578364 2009 Genome-wide association study identifies three loci associated with melanoma risk.

PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.

PMID 21706340 2012 A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.