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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
SLC6A17 - Solute Carrier Family 6 Member 17
Alias:
NTT4
MRT48
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是SLC6家族转运蛋白的一员,该家族负责大多数神经递质的前突触摄取。编码的囊泡转运体对脯氨酸、甘氨酸、亮氨酸和丙氨酸具有选择性。在小鼠中,该基因在皮质和海马组织中的表达最强,其中在胚胎期大脑发育期间表达增加,并在出生后达到峰值。该基因的缺陷会导致一种形式的常染色体隐性智力障碍。[由RefSeq提供,2017年7月]
Related ID:
NCBI:388662
ENSEMBL:ENSG00000197106
HGNC:31399
UNIPROT:Q9H1V8
OMIM:610299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
388662
1
12
51709 bp
81.00
58
1
2
5
SLC6A17 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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