Oculocutaneous albinism type I
Oculocutaneous albinism type I or type 1A [1] is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly.
Oculocutaneous albinism type I | |
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Other names | OCA1A or OCAIA |
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 band 2, sub-band 1.
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Classification | |
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