|
Gene id |
2934 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
GSN Gene UCSC Ensembl |
|
Aliases |
ADF, AGEL |
|
Gene name |
gelsolin |
|
Alternate names |
gelsolin, actin-depolymerizing factor, brevin, epididymis secretory sperm binding protein, |
|
Gene location |
9q33.2 (121201482: 121332843) Exons: 42 NC_000001.11
|
|
Gene summary(Entrez) |
The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of
|
|
OMIM |
137350 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04810 | Regulation of actin cytoskeleton | | hsa04666 | Fc gamma R-mediated phagocytosis | | hsa05203 | Viral carcinogenesis | | hsa05203 | Viral carcinogenesis | | hsa04810 | Regulation of actin cytoskeleton | | hsa04666 | Fc gamma R-mediated phagocytosis | |
|
| Associated diseases |
References |
| Amyloidosis | GAD: H02322 |
| Sperm capacitation | MIK: 26085344 |
| Male factor infertility | MIK: 26085344 |
| Acrosome reaction | MIK: 26085344 |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
| Oligospermia | MIK: 26085344 |
| Sperm capacitation | MIK: 26085344 |
| Acrosome reaction | MIK: 26085344 |
| Male infertility | MIK: 26085344 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26085344 |
Sperm capa
citation,
Acrosome r
eaction,
Male infer
tility
|
|
|
|
Male infertility |
|
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 |
|