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83959 SLC4A11

83959

SLC4A11

solute carrier family 4 member 11

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 4 member 11

研究结论

Date Results Publications
2021-02-27 13:52:00 Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family. 31420327
2021-02-13 13:27:00 [Identification of novel mutations of SLC4A11 gene in patients with congenital hereditary endothelial dystrophy]. 33541055
2020-12-26 13:13:00 Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies. 31691803
2020-10-31 13:12:00 Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies. 31273259
2020-10-24 14:10:00 pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations. 32520610

名称对应

Type IDs
Synonymous BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2
Gene
UniProtKB-ID: S4A11_HUMAN
UniprotKB: Q8NBS3
UniParc: UPI00006623E7, UPI00000738A5, UPI0000EE6F0E, UPI0000001CA2
EMBL: AK296508, BC110540, BC110541, AL109976, AK075303, CH471133, AK296760, AF336127
Ensembl: ENSG00000088836
KO: hsa:83959
Nucleutide sequences
EMBL-CDS: BAC11536.1, AAK16734.1, AAI10542.1, EAX10536.1, BAG59140.1, AAI10541.1, BAG59341.1
Ensembl_TRS: ENST00000380056, ENST00000642402, ENST00000380059
Protein sequencees
Ensembl_PRO: ENSP00000369396, ENSP00000493503, ENSP00000369399
RefSeq: XP_011527685.1, NP_001167560.1, XP_011527687.1, NP_001167561.1, XP_005260913.1, XP_016883586.1, XP_016883583.1, XP_016883582.1, XP_016883585.1, NP_114423.1, NP_001350674.1, XP_011527686.1, XP_005260914.1
Others
UniRef100: UniRef100_Q8NBS3
UniRef90: UniRef90_Q8NBS3
UniRef50: UniRef50_Q8NBS3
UniGene: Hs.105607
CCDS: CCDS13052.1, CCDS54445.1, CCDS54446.1

全选

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