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中文人类
SPTA1 - Spectrin Alpha, Erythrocytic 1
Alias:
EL2
HPP
HS3
SPH3
SPTA
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这个基因编码一个分子支架蛋白家族的成员，将质膜与肌动蛋白细胞骨架连接起来，并在细胞形状的决定、跨膜蛋白的排列和细胞器的组织中发挥作用。编码的蛋白质主要由22个谱蛋白重复序列组成，参与二聚体的形成。它形成红细胞质膜的一个组成部分。这个基因的突变导致各种遗传性红细胞疾病，包括2型椭圆形红细胞症、3型焦磷酸盐细胞症和3型球形细胞症。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SPTA1 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
