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284439 SLC25A42

284439

SLC25A42

solute carrier family 25 member 42

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 25 member 42

研究结论

Date Results Publications
2019-09-28 11:54:00 our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable. 29327420
2013-07-02 10:26:00 Compares and contrasts all the known human SLC25A* genes and includes functional information. 23266187
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
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 main physiological role of SLC25A42 is to import CoA into mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate 19429682

名称对应

Type IDs
Gene
UniProtKB-ID: S2542_HUMAN, Q8NHH2_HUMAN, A0A024R7K2_HUMAN
UniprotKB: Q86VD7, Q8NHH2, A0A024R7K2
UniParc: UPI000006F615, UPI0000198748
EMBL: FN356975, CH471106, AC002126, BC045598, AF521885, AC004143
Ensembl: ENSG00000181035
KO: hsa:284439
Nucleutide sequences
EMBL-CDS: CAX94853.1, AAH45598.1, AAC02758.1, AAB86983.1, AAM81327.1, EAW84777.1, EAW84778.1
Gene_ORFName: hCG_38564
Ensembl_TRS: ENST00000318596
Protein sequencees
Ensembl_PRO: ENSP00000326693
RefSeq: NP_001308473.1, NP_848621.2, XP_011526239.1, XP_005259918.1, XP_016882159.1
Others
UniRef100: UniRef100_Q86VD7, UniRef100_Q8NHH2
UniRef90: UniRef90_Q8NHH2, UniRef90_Q86VD7
UniRef50: UniRef50_Q8NHH2, UniRef50_Q86VD7
UniGene: Hs.303669
CCDS: CCDS32966.1

全选

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研究热度

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