|
Gene id |
55559 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HAUS7 Gene UCSC Ensembl |
|
Aliases |
UCHL5IP, UIP1 |
|
Gene name |
HAUS augmin like complex subunit 7 |
|
Alternate names |
HAUS augmin-like complex subunit 7, 26S proteasome-associated UCH37-interacting protein 1, UCHL5 interacting protein, X-linked protein STS1769, |
|
Gene location |
Xq28 (153495524: 153447664) Exons: 14 NC_000009.12
|
|
Gene summary(Entrez) |
This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alte
|
|
OMIM |
300540 |
|
| Associated diseases |
References |
| Oligozoospermia | MIK: 29017965 |
| Male factor infertility | MIK: 29017965 |
| Cryptorchidism | MIK: 28606200 |
| Severe oligozoospermia, male infertility | MIK: 29017965 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29017965 |
Severe oli
gozoosperm
ia, male i
nfertility
|
c.G386T:p.G129V |
|
2 brothers with
severe oligozo
ospermia and ma
le infertility
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|