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124925 SEZ6

124925

SEZ6

seizure related 6 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition seizure related 6 homolog

研究结论

Date Results Publications
2019-08-31 12:54:00 Study describes a targeted exome sequencing analysis of a large Italian kindred with Alzheimer disease, negative for PSEN and APP variants, that indicated the SEZ6 heterozygous mutation R615H is associated with the pathology. 30309378
2010-01-21 00:00:00 The human SEZ-6 gene is related to the occurrence and development of FS and may be a novel candidate gene for epilepsy. Screening for mutations in SEZ-6 may be valuable in predicting FS recurrence or the development of epilepsy. 17086543

名称对应

Type IDs
Synonymous BSRPC
Gene
UniProtKB-ID: SEZ6_HUMAN
UniprotKB: Q53EL9
UniParc: UPI0001750293, UPI0000049D91, UPI00000721D3, UPI000020158C
EMBL: AK054913, AC024267, AK223620, AY038048, AF502129, AK091522, AC024619, AL834405, AK055383, AF502130
Ensembl: ENSG00000063015
KO: hsa:124925
Nucleutide sequences
EMBL-CDS: AAK71497.1, BAB70826.1, AAM22213.1, BAC03684.1, AAM22214.1, BAD97340.1, CAD39067.1, BAB70912.1
Ensembl_TRS: ENST00000317338, ENST00000360295
Protein sequencees
Ensembl_PRO: ENSP00000353440, ENSP00000312942
RefSeq: NP_001277131.1, NP_001092105.1, XP_011522617.1, NP_849191.3, XP_011522619.1
Others
UniRef100: UniRef100_Q53EL9
UniRef90: UniRef90_Q53EL9
UniRef50: UniRef50_Q7TSK2
UniGene: Hs.21837
CCDS: CCDS45639.1, CCDS45638.1

全选

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研究热度

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