|
Gene id |
11131 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CAPN11 Gene UCSC Ensembl |
|
Aliases |
calpain11 |
|
Gene name |
calpain 11 |
|
Alternate names |
calpain-11, CANP 11, calcium-activated neutral proteinase 11, |
|
Gene location |
6p21.1 (44158810: 44184400) Exons: 25 NC_000084.6
|
|
Gene summary(Entrez) |
Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activ
|
|
OMIM |
604822 |
|
| Associated diseases |
References |
| It is involved in regulating calcium-dependent signal transduction events during meiosis and sperm functional processes | MIK: 16541461 |
| It is involved in regulating calcium-dependent signal transduction events during meiosis and sperm functional processes | MIK: 16541461 |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16541461 |
It is invo
lved in re
gulating c
alcium-dep
endent sig
nal transd
uction eve
nts during
meiosis a
nd sperm f
unctional
processes
|
|
|
|
Male infertility |
|
Show abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 23869807 |
Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
|
|
|
20 (4 controls,
16 cases)
|
Male infertility |
GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|