Symbol
| OCA1B
|
Location
| 11q14.3
|
Name
|
oculocutaneous albinism, type 1B |
Other name(s)
|
albinism, yellow mutant type |
Corresponding gene
|
TYR
|
Main clinical features
|
absence of pigment in hair, skin, and eyes, with reduced activity of tyrosinase, including yellow form of oculocutaneous albinism |
Genetic determination
| autosomal recessive |
Prevalence
| 25 p100 of the albinism type 1
|
Related entries
| . temperature-sensitive phenotype, with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities) of her body (tyrosinase assay demonstrated a loss of activity above 35-37 degrees C)
|
Function/system disorder
| dermatology |
| eye |
Type
| disease
|