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388662 SLC6A17

388662

SLC6A17

solute carrier family 6 member 17

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 6 member 17

研究结论

Date Results Publications
2015-05-16 12:55:00 Our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability. 25704603
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine. 19147495

名称对应

Type IDs
Synonymous MRT48, NTT4
Gene
UniProtKB-ID: S6A17_HUMAN
UniprotKB: Q9H1V8
UniParc: UPI0000470B3D
EMBL: AK289982, BC140908, AL137790, AL355990
Ensembl: ENSG00000197106
KO: hsa:388662
Nucleutide sequences
EMBL-CDS: BAF82671.1, AAI40909.1
Ensembl_TRS: ENST00000331565
Protein sequencees
Ensembl_PRO: ENSP00000330199
RefSeq: XP_006710706.1, NP_001010898.1
Others
UniRef100: UniRef100_Q9H1V8
UniRef90: UniRef90_Q9H1V8
UniRef50: UniRef50_Q9H1V8
UniGene: Hs.128382
CCDS: CCDS30799.1

全选

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研究热度

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