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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
SLC6A19 - Solute Carrier Family 6 Member 19
Alias:
HND
B0AT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个系统B(0)跨膜蛋白,它主动地将大多数中性氨基酸转运到上皮细胞的顶膜上。这个基因的突变可能导致Hartnup病,这是一种遗传性疾病,症状包括糙皮病、小脑性共济失调和精神病。B0AT1(SLC6A19)在肠道细胞中的表达和功能依赖于辅助蛋白血管紧张素转换酶2(ACE2)的存在,ACE2除了其他功能外,还作为B0AT1膜转运的分子伴侣。ACE2也是严重急性呼吸综合症冠状病毒(SARS-CoV)和导致2019年冠状病毒病(COVID-19)大流行的SARS-CoV-2的细胞受体[由RefSeq,2020年7月提供]。
Related ID:
NCBI:340024
ENSEMBL:ENSG00000174358
HGNC:27960
UNIPROT:Q695T7
OMIM:608893
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
340024
1
12
23517 bp
71.11
376
3
7
9
SLC6A19 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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