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Gene id 144406
Gene Summary    Diseases    PubMed    

Gene Summary

Gene Symbol WDR66   Gene   UCSC   Ensembl
Aliases CFAP251, CaM-IP4, SPGF33
Gene name WD repeat domain 66
Alternate names cilia- and flagella-associated protein 251, WD repeat-containing protein 66,
Gene location 12q24.31 (121918591: 122003918)     Exons: 23     NC_000001.11
Gene summary(Entrez) This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean
OMIM 618146
Associated diseases References
Spermatogenesis defects KEGG: H01282
Multiple morphological anomalies of sperm flagella (MMAF) MIK: 30122541
Sperm flagellar defects MIK: 30310178
Cryptorchidism MIK: 28606200
Male infertility MIK: 30122540
Multiple morphological abnormalities of the sperm flagellum (MMAF) MIK: 30122540
Male infertility MIK: 30310178
Sperm flagellar defects MIK: 30310178
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
30310178 Sperm flag
ellar defe
cts, human
male infe
rtility


Male infertility
Show abstract
30122540 Multiple m
orphologic
al abnorma
lities of
the sperm
flagellum
(MMAF), Ma
le inferti
lity

78 MMAF-affecte
d subjects
Male infertility
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract