|
Gene id |
11020 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
IFT27 Gene UCSC Ensembl |
|
Aliases |
BBS19, RABL4, RAYL |
|
Gene name |
intraflagellar transport 27 |
|
Alternate names |
intraflagellar transport protein 27 homolog, RAB, member of RAS oncogene family-like 4, rab-like protein 4, |
|
Gene location |
22q12.3 (36776118: 36758207) Exons: 9 NC_000068.7
|
|
Gene summary(Entrez) |
This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in mult
|
|
OMIM |
615870 |
|
| Associated diseases |
References |
| Bardet-Biedl syndrome | KEGG: H00418 |
| Controls sperm formation | MIK: 28964737 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Controls sperm formation | MIK: 28964737 |
| Male infertility | MIK: 28964737 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28964737 |
Controls s
perm forma
tion, Male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|