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中文人类
TYR - Tyrosinase
Alias:
ATN
CMM8
OCA1
OCA1A
OCAIA
SHEP3
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这个基因编码的酶催化酪氨酸转化为黑色素过程中的前两个步骤，以及至少后续的一个步骤。这个酶具有酪氨酸羟化酶和多巴氧化酶的催化活性，并且需要铜才能发挥作用。这个基因的突变导致眼皮肤白化病，而非病理性的多态性导致皮肤色素沉着的变化。人类基因组包含一个与这个基因的3'半相似的假基因。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TYR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
