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50651 SLC45A1

50651

SLC45A1

solute carrier family 45 member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 45 member 1

研究结论

Date Results Publications
2017-07-29 10:59:00 Our data strongly suggest that recessive mutations in SLC45A1 cause intellectual disability and epilepsy. SLC45A1 thus represents the second cerebral glucose transporter, in addition to GLUT1, to be involved in neurodevelopmental disability. 28434495

名称对应

Type IDs
Synonymous DNB5, IDDNPF
Gene
UniProtKB-ID: S45A1_HUMAN
UniprotKB: Q9Y2W3
UniParc: UPI000045893A
EMBL: CH471130, AF118274, AL356072
Ensembl: ENSG00000162426
KO: hsa:50651
Nucleutide sequences
EMBL-CDS: EAW71597.1, AAD27583.1
Ensembl_TRS: ENST00000471889
Protein sequencees
Ensembl_PRO: ENSP00000418096
RefSeq: NP_001366545.1, NP_001366543.1, NP_001366547.1, NP_001073866.3, XP_024303140.1, NP_001366546.1, NP_001366544.1
Others
UniRef100: UniRef100_Q9Y2W3
UniRef90: UniRef90_Q9Y2W3
UniRef50: UniRef50_Q9Y2W3
UniGene: Hs.463036

全选

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研究热度

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