Which chromosomes are affected by albinism?
The following chromosomes are affected by OCA:
* OCA1: This is the most common type of OCA, and it is caused by mutations in the TYR gene. The TYR gene encodes for tyrosinase, an enzyme that is essential for the production of melanin.
* OCA2: This type of OCA is caused by mutations in the OCA2 gene. The OCA2 gene encodes for a protein that is involved in the transportation of tyrosinase to the melanocytes, which are the cells that produce melanin.
* OCA3: This type of OCA is caused by mutations in the TYRP1 gene. The TYRP1 gene encodes for tyrosinase-related protein 1, which is an enzyme that is involved in the production of melanin.
* OCA4: This type of OCA is caused by mutations in the SLC24A5 gene. The SLC24A5 gene encodes for a protein that is involved in the transportation of copper to the melanocytes. Copper is an essential cofactor for tyrosinase, and without copper, tyrosinase cannot function properly.
In addition to these four types of OCA, there are also several other rare types of OCA that are caused by mutations in other genes.
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