|
Gene id |
10047 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CST8 Gene UCSC Ensembl |
|
Aliases |
CRES, CTES5 |
|
Gene name |
cystatin 8 |
|
Alternate names |
cystatin-8, cystatin 8 (cystatin-related epididymal specific), cystatin-related epididymal spermatogenic protein, epididymis secretory sperm binding protein, |
|
Gene location |
20p11.21 (23491076: 23507123) Exons: 7 NC_000017.11
|
|
Gene summary(Entrez) |
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory
|
|
OMIM |
608683 |
|
| Associated diseases |
References |
| Alzheimer's disease | GAD: 19204726 |
| Role in sperm development and maturation | MIK: 7619504 |
| Hypospermatogenesis | MIK: 28361989 |
| Role in sperm development and maturation | MIK: 7619504 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 7619504 |
Role in sp
erm develo
pment and
maturation
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|