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albinism, oculocutaneous
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Tyrosine metabolism
Homo sapiens (human)
2 genes
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OCA2
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
A global view of the OCA2-HERC2 region and pigmentation
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation
TYR
Polyphenol oxidases in plants and fungi: going places? A review
Tyrosinases from crustaceans form hexamers
TYRP1
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity
The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4
Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter
SLC45A2
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
SLC24A5
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
MC1R
Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)
Novel MITF targets identified using a two-step DNA microarray strategy
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
Melanocortin 1 receptor variation in the domestic dog
The genetics of cream coat color in dogs
Cancer Gene Census
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Definition
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External
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism