Basic Information
Symbol
TYR
RNA class
mRNA
Alias
Tyrosinase
OCAIA
OCA1A
OCA1
Oculocutaneous Albinism IA
Tumor Rejection Antigen AB
Monophenol Monooxygenase
EC 1.14.18.1
LB24-AB
SK29-AB
SHEP3
CMM8
ATN
Location (GRCh38)
11:89177875-89295759
Forensic tag(s)
-
MANE select
Transcript ID
NM_000372.5
Sequence length
2062.0 nt
GC content
0.4500
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| ACUGUAGUAGUAGCUGGAAAGAGAAAUCUGUGACUCCAAUUAGCCAGUU… | 2062 nt | 0.4500 |
Summary
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] CIViC Summary for TYR Gene
Forensic Context
No relevant information is available at the moment.