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81034 SLC25A32

81034

SLC25A32

solute carrier family 25 member 32

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 25 member 32

研究结论

Date Results Publications
2018-08-18 12:05:00 These data demonstrate that the loss of functional Slc25a32 results in cranial neural tube defects (NTDs) in mice and has also been observed in a human NTD patient. 29666258
2017-09-30 10:31:00 A novel SLC25A32 homozygous variant is associated with severe neuromuscular phenotype. 28443623
2015-06-27 14:23:00 SLC25A32 gene polymorphism could be a risk factor for lower folate concentration and future fracture. 24354357
2013-07-02 10:28:00 Compares and contrasts all the known human SLC25A* genes and includes functional information. 23266187
2011-12-10 12:05:00 identified residues in the walls and at the base of the transport cavity that are involved in substrate recognition by the MFT 21768094

名称对应

Type IDs
Synonymous MFT, MFTC, RREI
Gene
UniProtKB-ID: MFTC_HUMAN
UniprotKB: Q9H2D1
UniParc: UPI0000040C0F
EMBL: AF283645, AK027787, AC012213, CH471060, BC021893, AK027531
Ensembl: ENSG00000164933
KO: hsa:81034
Nucleutide sequences
EMBL-CDS: EAW91877.1, AAG37834.1, EAW91878.1, BAB55368.1, BAB55180.1, AAH21893.1
Ensembl_TRS: ENST00000297578
Protein sequencees
Ensembl_PRO: ENSP00000297578
RefSeq: NP_110407.2
Others
UniRef100: UniRef100_Q9H2D1
UniRef90: UniRef90_Q9H2D1
UniRef50: UniRef50_Q9H2D1
UniGene: Hs.532265, Hs.607819
CCDS: CCDS6300.1

全选

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研究热度

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