Full 2L QBank
Skin Disorder of Pigmentation c2322002

Enzyme deficient in occulocutaneous albinism type 1 is -

A
Tyrosinase
B
Pink protein
C
Tyrosinase related protein 1
D
Membrane associated transport protein (MATP)
High-Yield Explanation
Ans. is 'a' i.e., Tyrosinase Characteristics of AlbinismDiseaseChromosomeGene locusProtein {Biogenesis of lysome-related Organelles complex (BLOC)]Distinguishing signsOculocutaneous albinism type 11 lq21TYRTyrosinase/TYRType lA-no pigment Type 1 B-some pigmentOculocutaneous albinism type 215q11 2-q12PPink protein/PSome pigmentation apparent: nevi and freckles possibleOculocutaneous albinism type 39p23TYPR1Tyrosinase-related protein 1/TYRP1Similar to OCAZ phenotype includes rufous (red) albinism phenotypeOculocutaneous albinism type 45pMATPMembrane-associated transporter protein/MATPSimilar to OCAZ phenotype most common in individuals with Asian biogeographic ancestry.Chediak-Higashisyndromelq43LYSTLysosome trafficking/LYSTGiant peroxidase-positive lysosomal granules in neutrophils

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