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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
Sptlc2 - serine palmitoyltransferase, long chain base subunit 2
Alias:
LCB2
Spt2
LCB2a
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种长链碱基亚基,是丝氨酸棕榈酰转移酶的关键酶。该酶由两个不同的亚基组成,是鞘脂生物合成的关键酶。它催化L-丝氨酸和棕榈酰-CoA在吡哆醇-5'-磷酸存在下缩合生成3-氧代鞘氨醇。小鼠中这个基因的突变等位基因被用作人类疾病“银屑病1易感性”的模型。人类基因中的突变与遗传性感觉神经病变I型有关。[RefSeq,2015年9月提供]
Related ID:
NCBI:20773
ENSEMBL:ENSMUSG00000021036
UNIPROT:P97363
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20773
1
12
83298 bp
62.98
8
14
Sptlc2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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References Literature
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