|
Gene id |
7804 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
LRP8 Gene UCSC Ensembl |
|
Aliases |
APOER2, HSZ75190, LRP-8, MCI1 |
|
Gene name |
LDL receptor related protein 8 |
|
Alternate names |
low-density lipoprotein receptor-related protein 8, ApoE receptor 2, low density lipoprotein receptor-related protein 8, apolipoprotein e receptor, |
|
Gene location |
1p32.3 (53328069: 53242363) Exons: 22 NC_000017.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal d
|
|
OMIM |
602600 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 12695510 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12695510 |
Assocaited
with inab
ility of t
he sperm t
o regulate
the cell
volume and
in abnorm
al sperm m
orphology
and immoti
lity
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|