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788 SLC25A20

788

SLC25A20

solute carrier family 25 member 20

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 25 member 20

研究结论

Date Results Publications
2017-12-02 12:15:00 we report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G, we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder. 29137068
2017-11-04 10:49:00 We provide evidence that the downregulation of hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase in both expression and activity of CPT1A, CACT and CrAT in malignant prostate cells. 28671672
2015-01-10 10:19:00 The antiport mode of transport, typical of mitochondrial carriers such as CAC, results from coupling of uniport reactions in opposite directions mediated by specific amino acid residues. 25325845
2014-05-24 11:16:00 C.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. 24088670
2013-07-06 10:38:00 CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders. 23322164

名称对应

Type IDs
Synonymous CAC, CACT
Gene
UniProtKB-ID: MCAT_HUMAN
UniprotKB: O43772
UniParc: UPI000012ED5E
EMBL: Y17775, Y17777, AK312962, Y17778, BC001689, Y17776, Y10319, Y17779
Ensembl: ENSG00000178537
KO: hsa:788
Nucleutide sequences
EMBL-CDS: AAH01689.1, CAB55356.1, BAG35801.1, CAA71367.1
Ensembl_TRS: ENST00000319017
Protein sequencees
Ensembl_PRO: ENSP00000326305
RefSeq: NP_000378.1
Others
UniRef100: UniRef100_O43772
UniRef90: UniRef90_O43772
UniRef50: UniRef50_O43772
UniGene: Hs.13845
CCDS: CCDS2779.1

全选

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研究热度

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