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10479 SLC9A6

10479

SLC9A6

solute carrier family 9 member A6

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 9 member A6

研究结论

Date Results Publications
2020-12-26 13:11:00 Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. 32277048
2019-01-19 11:03:00 NHE6 role in the neoplasm chemoresistance.NHE6 transport from endosomes to the plasma membrane triggers endosome hyperacidification. 28635961
2017-11-11 10:49:00 membrane trafficking of the ES mutant in SLC9A6was impaired and elicited marked reductions in total dendritic length, area and arborization, and triggered apoptotic cell death 27590723
2017-10-28 12:00:00 by sequencing panels of genes in patients with no precise clinical diagnosis, NGS can broaden the clinical variability associated with a known gene. We also argue that SLC9A6 gene mutations in females could be responsible for a monogenic cause of mild learning disability/constitutive speech disorders. 27256868
2017-06-24 10:41:00 We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6 27142213

名称对应

Type IDs
Synonymous MRSA, NHE6
Gene
UniProtKB-ID: SL9A6_HUMAN, A0A1B0GV11_HUMAN
UniprotKB: Q92581, A0A1B0GV11
UniParc: UPI00002125B7, UPI0000062320, UPI00002125B8, UPI000012FD2F
EMBL: D87743, BC035029, AF030409, AL732579, AK316255, AK300475, BC049169, AK289775
Ensembl: ENSG00000198689
KO: hsa:10479
Nucleutide sequences
EMBL-CDS: BAA13449.1, BAG62192.1, AAC39643.1, BAF82464.1, AAH35029.1, AAH49169.1, BAH14626.1
Ensembl_TRS: ENST00000370701, ENST00000636347, ENST00000637234, ENST00000636092, ENST00000637581, ENST00000370698, ENST00000370695, ENST00000637195
Protein sequencees
Ensembl_PRO: ENSP00000490527, ENSP00000359732, ENSP00000490731, ENSP00000490406, ENSP00000490648, ENSP00000359729, ENSP00000359735, ENSP00000490330
RefSeq: NP_006350.1, NP_001171122.1, XP_016884713.1, XP_016884714.1, NP_001036002.1, XP_006724789.1, XP_016884712.1, NP_001317581.1, NP_001366039.1
Others
UniRef100: UniRef100_Q92581
UniRef90: UniRef90_Q92581
UniRef50: UniRef50_Q92581
UniGene: Hs.62185
CCDS: CCDS44003.1, CCDS55504.1, CCDS14654.1

全选

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研究热度

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