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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]
Albinism usually occurs with equal frequency in both sexes. [10] An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism occurs more frequently in males as they have a single X and Y chromosome, unlike females, whose genetics are characterized by two X chromosomes. [17]
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 ...
When we're born, our genetics are decided, but the body hasn't necessarily acted on all the genes in your DNA. When it comes to eye color, the melanin controlled by the OCA2 gene is diluted 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).
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 .
Albinism in molluscs has been recognized to be a hereditary phenomenon at least since 1900. [71] Albinism in molluscs can exist to a variable degree. Sometimes an individual snail has a normally pigmented body, but the shell is completely without the normal pigmentation because of a defect in the cells of the mantle. Shells of certain mollusc ...
Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism. [14] SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant. [15]