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中文人类
L1CAM - L1 Cell Adhesion Molecule
Alias:
S10
HSAS
HYCX
MASA
MIC5
SPG1
CAML1
CD171
HSAS1
N-CAML1
NCAM-L1
N-CAM-L1
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这个基因编码的蛋白质是一种轴突糖蛋白，属于免疫球蛋白超基因家族。外域由几个免疫球蛋白样结构域和纤连蛋白样重复序列（类型III）组成，通过一个单一的跨膜序列连接到一个保守的胞质结构域。这种细胞粘附分子在神经系统发育中起着重要作用，包括神经元迁移和分化。该基因的突变导致被称为CRASH（胼胝体发育不全、发育迟缓、失语、痉挛性偏瘫和水肿）的X连锁神经系统综合征。该基因的可变剪接导致多个转录变异体，其中一些包括被认为专属于神经元的替代外显子。[RefSeq提供，2013年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
L1CAM 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
