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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
FLVCR2 - FLVCR Choline And Putative Heme Transporter 2
Alias:
CCT
EPV
PVHH
MFSD7C
SLC49A2
C14orf58
FLVCRL14q
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个主要设施者超家族的成员。编码的跨膜蛋白是钙离子转运体。与相关的蛋白质猫白血病病毒C组受体1不同,这个位点编码的蛋白质不与猫白血病病毒C组包膜蛋白结合。这个编码的蛋白质可能在大脑血管内皮细胞发育中起作用,因为该位点的突变与增殖性血管病变和脑积水-水脑症综合征有关。已经描述了可替代剪接的转录变异体。[由RefSeq,2010年8月提供]
Related ID:
NCBI:55640
ENSEMBL:ENSG00000119686
HGNC:20105
UNIPROT:Q9UPI3
OMIM:610865
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55640
2
10
69548 bp
57.24
171
1
9
9
FLVCR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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