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中文人类
ALMS1 - ALMS1 Centrosome And Basal Body Associated Protein
Alias:
ALSS
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这个基因编码一个含有大型串联重复结构域以及其他低复杂度区域的蛋白质。编码的蛋白质在微管组织中发挥作用，特别是在纤毛的形成和维护中。这个基因的突变导致Alstrom综合症。这个基因在染色体2的同一区域有一个相邻的假基因。已描述了替代剪接变体，但其完整长度尚未确定。[由RefSeq，2014年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ALMS1 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
