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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
Sptlc1 - serine palmitoyltransferase, long chain base subunit 1
Alias:
Lcb1
SPT1
E030036H05
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活丝氨酸C-棕榈酰转移酶活性。参与脂肪细胞凋亡过程的调节和鞘糖脂生物合成过程。在鞘胺脂生物合成过程、鞘氨醇生物合成过程和鞘氨醇生物合成过程的上游或内部发挥作用。位于内质网膜上。在大脑和肝脏中表达。此基因的人类同源物与遗传性感觉和自主神经病1A型有关。与人类SPTLC1(丝氨酸棕榈酰转移酶长链碱基亚基1)正交。[由基因组资源联盟提供,2022年4月]
Related ID:
NCBI:268656
ENSEMBL:ENSMUSG00000021468
UNIPROT:O35704
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
268656
2
15
44670 bp
52.53
10
10
Sptlc1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
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