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10861 SLC26A1

10861

SLC26A1

solute carrier family 26 member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 26 member 1

研究结论

Date Results Publications
2017-11-26 00:18:00 SLC26A1 L348P was associated with lower whole-body bone mineral density (BMD) and higher serum calcium, consistent with the osteochondrodysplasia exhibited by dogs and sheep with naturally occurring, homozygous, loss-of-function mutations in Slc13a1 27412988
2017-08-26 12:51:00 Human SLC26A1 resembles SLC26 paralogs in its inhibition. 27125215
2017-05-13 20:32:00 Mutations in SLC26A1 gene is associated with Nephrolithiasis. 27210743
2014-06-28 11:18:00 Screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis, which is the commonest type. DNA sequence analyses showed missense mutations in seven patients. 24250268
2014-04-26 11:31:00 SLC26A1 protein,point mutation is highly responsible for the hearing loss of newborns. 23815884

名称对应

Type IDs
Synonymous CAON, EDM4, SAT-1, SAT1
Gene
UniProtKB-ID: S26A1_HUMAN
UniprotKB: Q9H2B4
UniParc: UPI0000070F78, UPI000013D9D4
EMBL: AY124771, AK292747, AF297659, BC015517, CH471131, AC019103
Ensembl: ENSG00000145217
KO: hsa:10861
Nucleutide sequences
EMBL-CDS: EAW82629.1, BAF85436.1, AAH15517.1, EAW82628.1, AAM94171.1, AAG22075.1
Ensembl_TRS: ENST00000398516, ENST00000622731, ENST00000361661, ENST00000398520
Protein sequencees
Ensembl_PRO: ENSP00000354721, ENSP00000483506, ENSP00000381532, ENSP00000381528
RefSeq: NP_602297.1, NP_998778.1, NP_071325.2
Others
UniRef100: UniRef100_Q9H2B4
UniRef90: UniRef90_Q9H2B4
UniRef50: UniRef50_Q9H2B4
UniGene: Hs.658244
CCDS: CCDS33933.1, CCDS33934.1

全选

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