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中文人类
OCA2 - OCA2 Melanosomal Transmembrane Protein
Alias:
P
BEY
PED
BEY1
BEY2
BOCA
EYCL
HCL3
EYCL2
EYCL3
SHEP1
D15S12
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这个基因编码小鼠p(粉红色眼稀释)基因的人类同系物。编码的蛋白质被认为是一种整合膜蛋白，参与小分子运输，尤其是作为黑色素合成前体的酪氨酸。它参与哺乳动物色素沉着，在那里它可以控制皮肤颜色的变化，并作为棕色或蓝色眼睛颜色的决定因素。这个基因的突变导致2型眼皮肤白化病。替代剪接导致多个转录变异体。[由RefSeq，2014年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OCA2 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
