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

Gene: LOC107984363

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs104894313 in TYR;LOC107984363 gene and ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

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.

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

PMID 21985232 2012 Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.

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

PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.

rs773970123 in TYR;LOC107984363 gene and Abnormality of the eye PMID 16098056 2005 Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).

rs28940876 in TYR;LOC107984363 gene and Albinism PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

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

rs104894313 in TYR;LOC107984363 gene and Albinism, Oculocutaneous PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 9242509 1997 Mutational analysis of copper binding by human tyrosinase.

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

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

PMID 22734612 2012 Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

PMID 1903591 1991 In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406.

PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

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

PMID 11284711 2001 The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

PMID 24123366 2014 Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

PMID 26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

PMID 25216246 2014 Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

PMID 21906913 2011 Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

PMID 18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

PMID 19320745 2009 Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

PMID 27775880 2017 Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

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

PMID 1970634 1990 This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals.

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

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

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

PMID 8430701 1993 Molecular analyses of a tyrosinase-negative albino family.

PMID 8434585 1993 A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

PMID 1905879 1991 Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

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

rs7105390 in TYR;LOC107984363 gene and Iron level result PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs7105390 in TYR;LOC107984363 gene and Iron measurement PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs598769 in TYR;LOC107984363 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs104894313 in TYR;LOC107984363 gene and Oculocutaneous albinism type 1A PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

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

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

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

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

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

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

PMID 8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.

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

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

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

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

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

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

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

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

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

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

PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.

PMID 21985232 2012 Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.

PMID 21458243 2011 Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

PMID 16570240 2006 Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.

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

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

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

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

rs621313 in TYR;LOC107984363 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.