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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
BCAM - Basal Cell Adhesion Molecule (Lutheran Blood Group)
Alias:
AU
LU
CD239
MSK19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码路德教派血型糖蛋白,属于免疫球蛋白超家族成员,也是细胞外基质蛋白,层粘连蛋白的受体。该蛋白包含五个细胞外免疫球蛋白结构域,一个单一的跨膜结构域和一个短的C端细胞质尾。这个蛋白可能在上皮细胞癌症和镰状细胞疾病的红细胞血管闭塞中发挥作用。这个基因的多态性定义了路德教派系统和一些奥伯杰系统中的抗原。这个基因的失活变异导致路德教派血型的隐性路德教派空表型,Lu(a-b-)。已经为这个基因发现了两种编码不同异型的转录变异体。[由RefSeq提供,2012年5月]
Related ID:
NCBI:4059
ENSEMBL:ENSG00000187244
HGNC:6722
UNIPROT:P50895
OMIM:612773
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4059
2
15
12363 bp
67.41
48
1
6
14
BCAM Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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