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Gene id 26128
Gene Summary    Diseases    PubMed    

Gene Summary

Gene Symbol KIFBP   Gene   UCSC   Ensembl
Aliases KBP, KIAA1279, KIF1BP, TTC20
Gene name kinesin family binding protein
Alternate names KIF1-binding protein, KIF1 binding protein, kinesin binding protein, mutant KIF1 binding protein,
Gene location 10q22.1 (68988802: 69016981)     Exons: 8     NC_000012.12
Gene summary(Entrez) This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene
OMIM 609367
Associated diseases References
Alzheimer's disease GAD: 16385451
Associated with spermatoid elongation MIK: 26245936
Goldberg-Shprintzen megacolon syndrome KEGG: H00936
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Associated with spermatoid elongation MIK: 26245936
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26245936 Associated
with sper
matoid elo
ngation


Male infertility
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract