Tyrosinase

Alternative Names

  • TYR
  • Melanoma, Cutaneous Malignant, Susceptibility to, 8
  • CMM8
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OMIM Number

606933

NCBI Gene ID

7299

Uniprot ID

P14679

Length

117,902 bases

No. of Exons

6

No. of isoforms

2

Protein Name

Tyrosinase

Molecular Mass

60393 Da

Amino Acid Count

529

Genomic Location

chr11:89,177,858-89,295,759

Gene Map Locus
11q14-q21

Description

Tyrosinase enzyme catalyzes the first two steps, and at least one subsequent step, in the conversion of tyrosine to melanin. Mutations in the tyrosinase gene cause common types of oculocutaneous albinism; especially OCA Type 1, which is an autosomal recessive disorder of reduced pigmentation in the hair, skin and eyes. Two different types of OCA1, A and B, can be distinguished in humans, based mainly on clinical observation, whereby OCA1A is the more severe type with absence of tyrosinase activity and pigmentation throughout life.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000372.4:c.1207delLebanonNC_000011.10:g.89284795delLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.111924del; NM_000372.4:c.1207del; NP_000363.1:p.Arg403GlyfsTer82
NM_000372.4:c.814T>CLebanonNC_000011.10:g.89178767T>CLikely PathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.5896T>C; NM_000372.4:c.814T>C; NP_000363.1:p.Trp272Arg
NM_000372.5:c.1037-1G>ALebanon; Saudi Arabiachr11:89227822PathogenicPathogenicOculocutaneous Albinism, Type IANG_008748.1:g.54951G>A; NM_000372.5:c.1037-1G>A6175438299526
NM_000372.5:c.1037G>ALebanonNC_000011.10:g.89227823G>ALikely Pathogenic, PathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.54952G>A; NM_000372.5:c.1037G>A; NP_000363.1:p.Gly346Glu773970123617799
NM_000372.5:c.1076A>TLebanonNC_000011.10:g.89227862A>TLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.54991A>T; NM_000372.5:c.1076A>T; NP_000363.1:p.Gln359Leu1943996792
NM_000372.5:c.1078A>GLebanonNC_000011.10:g.89227864A>GLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.54993A>G; NM_000372.5:c.1078A>G; NP_000363.1:p.Ser360Gly
NM_000372.5:c.1204C>TLebanonNC_000011.10:g.89284792C>TPathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.111921C>T; NM_000372.5:c.1204C>T; NP_000363.1:p.Arg402Ter6264591799542
NM_000372.5:c.1298A>GLebanonNC_000011.10:g.89284886A>GLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.112015A>G; NM_000372.5:c.1298A>G; NP_000363.1:p.Tyr433Cys1944764003
NM_000372.5:c.1342G>ALebanonNC_000011.10:g.89284930G>ALikely Pathogenic, PathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.112059G>A; NM_000372.5:c.1342G>A; NP_000363.1:p.Asp448Asn1048943183802
NM_000372.5:c.149C>ALebanonchr11:89178102Likely PathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.5231C>A; NM_000372.5:c.149C>A; NP_000363.1:p.Ser50Ter6175318199550
NM_000372.5:c.255T>GLebanonchr11:89178208Likely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.5337T>G; NM_000372.5:c.255T>G; NP_000363.1:p.Tyr85Ter746208814
NM_000372.5:c.766C>TLebanonchr11:89178719Likely PathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.5848C>T; NM_000372.5:c.766C>T; NP_000363.1:p.His256Tyr6175437099580
NM_000372.5:c.816G>CEgypt; JordanNC_000011.10:g.89178769G>CLikely PathogenicOculocutaneous Albinism, Type IANG_008748.1:g.5898G>C; NM_000372.5:c.816G>C; NP_000363.1:p.Trp272Cys6264590299581
NM_000372.5:c.895C>TLebanon; Saudi Arabiachr11:89191277PathogenicPathogenicOculocutaneous Albinism, Type IANG_008748.1:g.18406C>T; NM_000372.5:c.895C>T; NP_000363.1:p.Arg299Cys617543741284359
NM_000372.5:c.896G>ALebanonNC_000011.10:g.89191278G>APathogenicLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BNG_008748.1:g.18407G>A; NM_000372.5:c.896G>A; NP_000363.1:p.Arg299His617543753796
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