|
Gene id |
7347 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UCHL3 Gene UCSC Ensembl |
|
Aliases |
UCH-L3 |
|
Gene name |
ubiquitin C-terminal hydrolase L3 |
|
Alternate names |
ubiquitin carboxyl-terminal hydrolase isozyme L3, testicular tissue protein Li 221, ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase), ubiquitin thioesterase L3, ubiquitin thiolesterase, |
|
Gene location |
13q22.2 (75549479: 75606019) Exons: 13 NC_000001.11
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. T
|
|
OMIM |
603090 |
|
| Associated diseases |
References |
| May function in the meiotic differentiation of spermatocytes into spermatids | MIK: 15084487 |
| Spermatogenic defects | MIK: 15084487 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 15084487 |
May functi
on in the
meiotic di
fferentiat
ion of spe
rmatocytes
into sper
matids
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|