|
Gene id |
57082 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KNL1 Gene UCSC Ensembl |
|
Aliases |
AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105 |
|
Gene name |
kinetochore scaffold 1 |
|
Alternate names |
kinetochore scaffold 1, ALL1-fused gene from chromosome 15q14 protein, blinkin, bub-linking kinetochore protein, cancer susceptibility candidate 5, cancer susceptibility candidate gene 5 protein, cancer/testis antigen 29, kinetochore null 1 homolog, kinetochore-, |
|
Gene location |
15q15.1 (40594011: 40664341) Exons: 27 NC_000015.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spind
|
|
OMIM |
609173 |
|
| Associated diseases |
References |
| Male factor infertility | MIK: 21272090 |
| Plays a crucial role in speramtogenesis | MIK: 15579588 |
| Maintanence of acrosome | MIK: 15579588 |
| Primary microcephaly | KEGG: H00269 |
| Male infertility | MIK: 21272090 |
| Plays an important role in spermatogenesis, maintanence of acrosome | MIK: 15579588 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21272090 |
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 15579588 |
Plays an i
mportant r
ole in spe
rmatogenes
is, mainta
nence of a
crosome
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|