|
Gene id |
27151 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CPAMD8 Gene UCSC Ensembl |
|
Aliases |
ASGD8, K-CAP, VIP |
|
Gene name |
C3 and PZP like alpha-2-macroglobulin domain containing 8 |
|
Alternate names |
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8, alpha-2 macroglobulin family protein VIP, |
|
Gene location |
19p13.11 (17026817: 16892950) Exons: 43 NC_000019.10
|
|
Gene summary(Entrez) |
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two cha
|
|
OMIM |
605785 |
|
| Associated diseases |
References |
| Anterior segment dysgenesis | KEGG:H01159 |
| Anterior segment dysgenesis | KEGG:H01159 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|