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ProteomicsProtein expression and identification of Tyrp1 Mutant Variants Associated with OCA3 form of albinism.
Oculocutaneous albinism type 3 (OCA3) is an autosomal recessive disorder caused by mutations in the TYRP1 gene. Tyrosinase-related protein 1 (Tyrp1) is involved in eumelanin synthesis, catalyzing the oxidation of 5,6-dihydroxyindole-2-carboxylic acid oxidase (DHICA) to 5,6-indolequinone-2-carboxylic...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2023-06-12 | PXD034893 | Pride
Oca3 Albinism Tyrp1 
ProteomicsProtein expression and identification of Tyrp1 Mutant Variants Associated with OCA3 form of albinism.
Oculocutaneous albinism type 3 (OCA3) is an autosomal recessive disorder caused by mutations in the TYRP1 gene. Tyrosinase-related protein 1 (Tyrp1) is involved in eumelanin synthesis, catalyzing the oxidation of 5,6-dihydroxyindole-2-carboxylic acid oxidase (DHICA) to 5,6-indolequinone-2-carboxylic...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2023-06-12 | PXD034892 | Pride
Oca3 Albinism Tyrp1 
GenomicsMolecular diagnosis of albinism
Albinism is genetically heterogeneous rare genetic condition affecting 1:17000 in the Western world (but more frequent in Africa) whose main feature is a profound visual impairment, characterised by foveal hypoplasia, abnormal chiasmatic connections, nystagmus and photofobia. All these features res...
EGAS00001002068 | EGA
UnknownA participatory systematic review on human rights and the birth of a child with albinism in sub-Saharan Africa.
Not available
S-EPMC12699010 | biostudies-literature
GenomicsRetinal Contributions to Vision Loss in Albinism
Retinal Contributions to Vision Loss in Albinism
PRJNA1083060 | ENA
GenomicsRetinal Contributions to Vision Loss in Albinism
Retinal Contributions to Vision Loss in Albinism
PRJNA1083061 | ENA
GenomicsGenetic Mutations and Cis-Regulatory Features Underlying Albinism
Genetic Mutations and Cis-Regulatory Features Underlying Albinism
PRJNA1373323 | ENA
GenomicsGenetic Mutations and Cis-Regulatory Features Underlying Albinism
Genetic Mutations and Cis-Regulatory Features Underlying Albinism
PRJNA1373322 | ENA
GenomicsAlbinism Family Array CGH Data
Albinism Family Array CGH Data
PRJNA785601 | ENA
UnknownReactions to and explanations for the birth of a baby with albinism: a qualitative study in Busoga, Uganda.
Not available
S-EPMC7907870 | biostudies-literature
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