|
Gene id |
10938 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
EHD1 Gene UCSC Ensembl |
|
Aliases |
H-PAST, HPAST1, PAST, PAST1 |
|
Gene name |
EH domain containing 1 |
|
Alternate names |
EH domain-containing protein 1, PAST homolog 1, testilin, |
|
Gene location |
11q13.1 (64879712: 64851641) Exons: 7 NC_000011.10
|
|
Gene summary(Entrez) |
This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be a
|
|
OMIM |
605888 |
|
|
|
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| Associated diseases |
References |
| Spermatogenesis defects | MIK: 20359371 |
| Cryptorchidism | MIK: 28606200 |
| Role in spermatogenesis | MIK: 20359371 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 20359371 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|