|
Gene id |
23193 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
GANAB Gene UCSC Ensembl |
|
Aliases |
G2AN, GIIA, GLUII, PKD3 |
|
Gene name |
glucosidase II alpha subunit |
|
Alternate names |
neutral alpha-glucosidase AB, alpha-glucosidase 2, |
|
Gene location |
11q12.3 (62646725: 62624825) Exons: 26 NC_000011.10
|
|
Gene summary(Entrez) |
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glyc
|
|
OMIM |
104160 |
|
| Associated diseases |
References |
| Polycystic kidney disease | KEGG: H00542 |
| Azoospermia | MIK: 1530367 |
| Potter syndrome | KEGG: H01728 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Azoopsermia | MIK: 1530367 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 1530367 |
Azoospermi
a
|
|
|
69 subjects (8
normozoospermic
controls, 7 se
cretory, and 54
excretory azoo
spermic subject
s)
|
Male infertility |
alpha-glucosidase
alpha-mannosidase
N-acetyl-beta-D-glucosaminidase
|
Show abstract |
| 1530367 |
Azoopsermi
a
|
|
|
69 (8 normozoos
permic controls
, 7 secretory,
and 54 excretor
y azoospermic s
ubjects)
|
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 |
|