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23639 LRRC6

23639

LRRC6

leucine rich repeat containing 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition leucine rich repeat containing 6

研究结论

Date Results Publications
2018-08-25 12:07:00 Our study not only further supported the importance of LRRC6 in Primary ciliary dyskinesia (PCD), but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients. 29511670
2013-12-21 10:35:00 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469
2013-09-21 10:43:00 LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects. 23527195
2013-01-26 11:17:00 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 23122589

名称对应

Type IDs
Synonymous CILD19, LRTP, TSLRP
Gene
UniProtKB-ID: TILB_HUMAN
UniprotKB: Q86X45
UniParc: UPI000000DBC5, UPI0000F3BE3B
EMBL: BC047286, U60666, BC027589
Ensembl: ENSG00000129295
KO: hsa:23639
Nucleutide sequences
EMBL-CDS: AAH27589.1, AAH47286.1, AAB02976.1
Ensembl_TRS: ENST00000519595, ENST00000620350
Protein sequencees
Ensembl_PRO: ENSP00000429791, ENSP00000484634
RefSeq: XP_016868787.1, XP_011515252.1, XP_016868785.1, XP_016868786.1, NP_001308894.1, NP_001308891.1, XP_006716601.2, NP_001308890.1, NP_036604.2, NP_001308893.1, NP_001308892.1, NP_001308895.1
Others
UniRef100: UniRef100_Q86X45
UniRef90: UniRef90_Q86X45
UniRef50: UniRef50_Q86X45
UniGene: Hs.591865
CCDS: CCDS6365.1

全选

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