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55779 CFAP44

55779

CFAP44

cilia and flagella associated protein 44

protein-coding

Homo sapiens

基因描述

Type Description
Definition cilia and flagella associated protein 44

研究结论

Date Results Publications
2020-05-02 12:05:00 important cause of multiple morphological abnormalities of the sperm flagellum in the Chinese population 30904354
2019-04-20 12:15:00 Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF. 29277146
2018-09-22 10:49:00 demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human 29449551
2017-08-05 10:32:00 biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility. 28552195
2015-10-03 10:44:00 Results show that the rs13064411 polymorphism in the WDR52 gene was associated with a modified effect of statin therapy on serum LDL and total cholesterol levels. 25602530

名称对应

Type IDs
Synonymous SPGF20, WDR52
Gene
UniProtKB-ID: CFA44_HUMAN, Q9NUU0_HUMAN, Q9UF55_HUMAN
UniprotKB: Q96MT7, Q9NUU0, Q9UF55
UniParc: UPI0000367198, UPI000006D67B, UPI000006EE80, UPI000006E4F8
EMBL: BC113553, AK056472, AC023894, AK002004, AC026329, AL133606, AC112128, AC026348, CH471052, BC101582
Ensembl: ENSG00000206530
KO: hsa:55779
Nucleutide sequences
EMBL-CDS: AAI13554.1, EAW79641.1, BAB71193.1, AAI01583.1, BAA92030.1, CAB63738.1
Ensembl_TRS: ENST00000295868, ENST00000393845
Protein sequencees
Ensembl_PRO: ENSP00000377428, ENSP00000295868
RefSeq: NP_060808.2, NP_001157968.1
Others
UniRef100: UniRef100_Q9NUU0, UniRef100_Q96MT7, UniRef100_Q9UF55
UniRef90: UniRef90_H0Y896, UniRef90_Q9UF55, UniRef90_Q96MT7
UniRef50: UniRef50_Q9UF55, UniRef50_Q96MT7, UniRef50_H0Y896
UniGene: Hs.584936
CCDS: CCDS54624.1, CCDS2972.1

全选

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