TYR Chromosome 11
Tyrosinase
Upload your DNA to see your personal genotypes for variants in TYR.
What This Gene Does
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Tyrosinase family
Locus Type
gene with protein product
Location
11q14.3
Ensembl
ENSG00000077498
Associated Conditions (38)
Inborn genetic diseases
TYR-related disorder
SKIN/HAIR/EYE PIGMENTATION 3
LIGHT/DARK SKIN
Oculocutaneous albinism type 1A
Oculocutaneous albinism
Oculocutaneous albinism type 1B
Albinism or congenital nystagmus
Pigmentary skin disorders
Ocular albinism with congenital sensorineural hearing loss
Hearing impairment
Abnormality of the skin
Autosomal recessive TYR-related disorders
Nonsyndromic Oculocutaneous Albinism
8 conditions
Melanoma
Familial cancer of breast
Albinism
Congenital nystagmus
Temperature-sensitive oculocutaneous albinism type 1
+18 more conditions
Key Variants
RS1010038586
Conflicting classifications of pathogenicity
Inborn genetic diseases, TYR-related disorder, Inborn genetic diseases
Health Risk
RS1042602
Conflicting classifications of pathogenicity
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism type 1A
Health Risk
RS104894313
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 1B, Oculocutaneous albinism, Oculocutaneous albinism type 1A
Health Risk
RS1064795343
Conflicting classifications of pathogenicity
Health Risk
RS1064796028
Conflicting classifications of pathogenicity
Health Risk
RS1287652457
Conflicting classifications of pathogenicity
Oculocutaneous albinism, Oculocutaneous albinism
Health Risk
RS1311286117
Conflicting classifications of pathogenicity
Oculocutaneous albinism, Oculocutaneous albinism
Health Risk
RS13312744
Conflicting classifications of pathogenicity
Health Risk
RS1413017181
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
Health Risk
RS1413966492
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141930049
Conflicting classifications of pathogenicity
TYR-related disorder, Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3
Health Risk
RS141967840
Conflicting classifications of pathogenicity
Oculocutaneous albinism, Oculocutaneous albinism type 1A, Oculocutaneous albinism
Health Risk
All Variants (262)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754661359 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS757754120 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS763715899 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS770218017 | Health Risk | Pathogenic/Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism type 1A |
| RS773970123 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the eye, Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS775683960 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS778881311 | Health Risk | Pathogenic/Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS779929859 | Health Risk | Pathogenic/Likely pathogenic | TYR-related disorder, Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B |
| RS796051880 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1, Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B |
| RS797046082 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS797046083 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN |
| RS867751958 | Health Risk | Pathogenic/Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism type 1B |