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387700 SLC16A12

387700

SLC16A12

solute carrier family 16 member 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 16 member 12

研究结论

Date Results Publications
2021-01-02 12:52:00 Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells. 32781157
2020-12-26 13:11:00 Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter. 32249133
2018-03-24 11:48:00 We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter. 29088427
2017-05-27 11:27:00 our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome 26376857
2014-02-08 10:32:00 study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. 23578822

名称对应

Type IDs
Synonymous CJMG, CRT2, CTRCT47, MCT12
Gene
UniProtKB-ID: MOT12_HUMAN
UniprotKB: Q6ZSM3
UniParc: UPI0000049FA0
EMBL: AK124901, AK127303, AL353146, BC086873
Ensembl: ENSG00000152779
KO: hsa:387700
Nucleutide sequences
EMBL-CDS: AAH86873.1, BAC85987.1, BAC86925.1
Ensembl_TRS: ENST00000371790
Protein sequencees
Ensembl_PRO: ENSP00000360855
RefSeq: NP_998771.3, XP_016871727.1, XP_016871726.1, XP_016871728.1, XP_024303762.1
Others
UniRef100: UniRef100_Q6ZSM3
UniRef90: UniRef90_Q6ZSM3
UniRef50: UniRef50_Q6ZSM3
UniGene: Hs.530338
CCDS: CCDS7404.2

全选

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