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Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]
The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people". [ 6 ] According to the National Organization for Albinism and Hypopigmentation , "With ocular albinism, the color of the iris of the eye may vary from blue to green or even brown, and sometimes ...
Oculocutaneous albinism type I or type 1A [1] is form of the autosomal recessive condition oculocutaneous albinism that is caused by a dysfunction in the gene for tyrosinase (symbol TYR or OCA1). The location of OCA1 may be written as "11q1.4–q2.1", meaning it is on chromosome 11 , long arm, somewhere in the range of band 1, sub-band 4, and ...
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Snowflake’s albinism gave him white hair, pink skin, and blue eyes, similar to a human with albinism. Snowflake the world-famous white gorilla lived at the Barcelona Zoo for 36 years, fathering ...
Oculocutaneous albinism type 1a Oculocutaneous albinism type 1b: TYRP1: Tyrosine-related protein 1: Oculocutaneous albinism type 3: FLT4: VEGFR-3: Milroy disease: VHL: Von Hippel–Lindau disease: XPA: Xeroderma pigmentosa: XPB: DNA helicase: Xeroderma pigmentosa Trichothiodystrophy Xeroderma pigmentosum–Cockayne syndrome: XPC: Xeroderma ...
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. [5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin .
Salk Institute researchers have identified a key protein that may help users of GLP-1 drugs such as Ozempic and Wegovy maintain muscle mass while losing weight.