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中文人类
SLC33A1 - Solute Carrier Family 33 Member 1
Alias:
AT1
AT-1
ACATN
SPG42
CCHLND
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这个基因编码的蛋白质是形成O-乙酰化(Ac)神经节苷脂所必需的。该编码蛋白质预测含有6到10个跨膜结构域，并在跨膜结构域III中有一个亮氨酸拉链基序。这个基因的缺陷已被报道在一个中国家庭中导致痉挛性偏瘫常染色体显性42型(SPG42)，但在欧洲后裔的类似患者中未见报道。已发现这个基因有两个转录变异体，编码相同的蛋白质。[RefSeq，2010年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC33A1 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
