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中文人类
ASAH1 - N-acylsphingosine Amidohydrolase 1
Alias:
AC
PHP
ASAH
PHP32
ACDase
SMAPME
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这个基因编码酸鞘氨醇酶家族蛋白质的一员。可变剪接产生多种转录子变异体，其中至少一个编码前原蛋白，该前原蛋白在蛋白水解过程中被加工。这个前原蛋白生成α和β亚基，它们异二聚化形成成熟的溶酶体酶，该酶催化鞘氨醇降解为神经鞘氨醇和游离脂肪酸。这个酶在多种人类癌症中过度表达，可能参与癌症进展。这个基因的突变与溶酶体储存障碍Farber脂肉芽肿病和神经肌肉疾病进行性肌阵挛癫痫性脊髓肌无力有关。[RefSeq,2015年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ASAH1 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
