|
Gene id |
79718 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TBL1XR1 Gene UCSC Ensembl |
|
Aliases |
C21, DC42, IRA1, MRD41, TBLR1 |
|
Gene name |
transducin beta like 1 X-linked receptor 1 |
|
Alternate names |
F-box-like/WD repeat-containing protein TBL1XR1, TBL1-related protein 1, nuclear receptor co-repressor/HDAC3 complex subunit, nuclear receptor corepressor/HDAC3 complex subunit TBLR1, |
|
Gene location |
3q26.32 (177197481: 177019356) Exons: 21 NC_000024.10
|
|
Gene summary(Entrez) |
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and hi
|
|
OMIM |
608628 |
|
| Pathway id | Pathway name |
|---|
| hsa04310 | Wnt signaling pathway | |
|
| Associated diseases |
References |
| Mental retardation | KEGG: H00773 |
| Plays a crucial role in speramtogenesis | MIK: 28475176 |
| Pierpont syndrome | KEGG: H02334 |
| Spermatogenic defects | MIK: 28475176 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28475176 |
Play a rol
e in sperm
different
iation
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|