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Rabbit Anti-TRP1/FITC Conjugated antibody
background:
TRP1 is a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III.
Function:
Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized.
Subcellular Location:
Melanosome membrane; Single-pass type I membrane protein (By similarity). Note=Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOSLC1 complex (By similarity).
Tissue Specificity:
Pigment cells.
DISEASE:
Albinism oculocutaneous 3 (OCA3) [MIM:203290]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the tyrosinase family.
Database links:
Entrez Gene: 7306 Human
Entrez Gene: 22178 Mouse
Omim: 115501 Human
SwissProt: P17643 Human
SwissProt: P07147 Mouse
Unigene: 270279 Human
Unigene: 30438 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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