眼白化病
酪氨酸酶
白化病
错义突变
色素减退
黑色素
黑素细胞
遗传学
生物
突变
分子生物学
基因
酶
生物化学
黑色素瘤
作者
Lutz B. Giebel,R. K. Tripathi,Richard A. King,Richard A. Spritz
摘要
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.
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