|
Gene id |
29127 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RACGAP1 Gene UCSC Ensembl |
|
Aliases |
CYK4, HsCYK-4, ID-GAP, MgcRacGAP |
|
Gene name |
Rac GTPase activating protein 1 |
|
Alternate names |
rac GTPase-activating protein 1, male germ cell RacGap, protein CYK4 homolog, |
|
Gene location |
12q13.12 (50033205: 49989161) Exons: 23 NC_000017.11
|
|
Gene summary(Entrez) |
This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This pro
|
|
OMIM |
604980 |
|
| Associated diseases |
References |
| Teratozoospermia | MIK: 26404029 |
| Spermatogenesis defects | MIK: 24355749 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
| May contribute to occurrence and development of teratozoospermia | MIK: 26404029 |
| Male infertility | MIK: 26404029 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26404029 |
May contri
bute to oc
currence a
nd develop
ment of te
ratozoospe
rmia, Male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 24355749 |
Impairs sp
ermatogene
sis
|
|
|
|
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 |
| 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 |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|