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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Oca2 - oculocutaneous albinism II
Alias:
p
D7Nic1
p
D7H15S12
D7Icr28RN
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
黑色素生物合成过程、黑色素细胞分化和精细胞发育等几个过程中的上游或内部作用。预测位于内质网膜、内质网膜和溶酶体膜上。预测在黑色素体膜上具有活性。在大脑和眼睛中表达。用于研究眼皮肤白化病。这个基因的人类同源物与日光性角化病、眼皮肤白化病Ⅱ型、色素沉着疾病、皮肤癌(多种)和鳞状细胞癌有关。与人类OCA2(OCA2黑色素体膜蛋白)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18431
ENSEMBL:ENSMUSG00000030450
UNIPROT:Q62052
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18431
3
24
296926 bp
91.87
89
7
Oca2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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