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 |
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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 |
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