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中文人类
WASHC5 - WASH Complex Subunit 5
Alias:
RTSC
SPG8
RTSC1
KIAA0196
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这个基因编码一个134kDa的蛋白质，被预测具有多个跨膜结构域和一个包含spectrin重复序列的结构域。这个广泛表达的基因在骨骼肌中表达最高。这个蛋白质是以Strumpell病命名的，这是一种遗传性痉挛性截瘫（HSP）的形式。痉挛性截瘫是一组多样的疾病，其中常染色体显性形式的特征是进行性下肢痉挛，由最长降支和升支皮质脊髓束末端部分的轴突变性引起。已有30多个位置（SPG1-33）与遗传性痉挛性截瘫疾病有关。[RefSeq，2009年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
WASHC5 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
