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6536 SLC6A9

6536

SLC6A9

solute carrier family 6 member 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 6 member 9

研究结论

Date Results Publications
2020-12-19 13:43:00 Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia? 32796235
2017-05-20 14:20:00 Whole-exome sequencing revealed a novel homozygous missense variant in exon 9 of SLC6A9 NM_201649.3: c.1219 A>G (p.Ser407Gly) that segregates with the disease within the family. In murine model, knockout of Slc6a9 is associated with equivalent phenotype of non-ketotic hyperglycinemia (NKH), namely respiratory distress and hypotonia. 27481395
2017-05-20 11:52:00 This study demonstrates that lack of GLYT1 leads to a distinct human neurological syndrome hallmarked by mildly elevated cerebrospinal fluid glycine and normal serum glycine. 27773429
2016-09-03 11:02:00 Study found that temporal lobe epilepsy is associated with increased levels of GlyT1 26302655
2013-10-19 12:17:00 Following biopterin administration, glycine transporter type I occupancy correlates with biopterin plasma concentration. 23132267

名称对应

Type IDs
Synonymous GCENSG, GLYT1
Gene
UniProtKB-ID: SC6A9_HUMAN, B7Z589_HUMAN, B7Z3W8_HUMAN
UniprotKB: P48067, B7Z589, B7Z3W8
UniParc: UPI0000204F05, UPI0001914EDD, UPI0001914BA4, UPI000053030B, UPI000053030A
EMBL: CH471059, AK298611, AK296438, AL139220, S70609, S70612
Ensembl: ENSG00000196517
KO: hsa:6536
Nucleutide sequences
EMBL-CDS: AAB30784.1, AAB30785.1, EAX07057.1, EAX07056.1, BAH12825.1, BAH12354.1
Ensembl_TRS: ENST00000673836, ENST00000357730, ENST00000372310, ENST00000360584, ENST00000475075
Protein sequencees
Ensembl_PRO: ENSP00000350362, ENSP00000501314, ENSP00000361384, ENSP00000353791, ENSP00000434460
RefSeq: NP_001315559.1, NP_001315557.1, NP_964012.2, NP_001315558.1, XP_016857641.1, NP_001020016.1, NP_001315555.1, XP_016857642.1, XP_024305063.1, NP_001248309.1, XP_011540319.1, NP_001315556.1, NP_008865.2
Others
UniRef100: UniRef100_B7Z3W8, UniRef100_P48067
UniRef90: UniRef90_P48067, UniRef90_P28571-2
UniRef50: UniRef50_P28571
UniGene: Hs.442590
CCDS: CCDS41317.1, CCDS30695.1, CCDS41316.1

全选

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