|
Gene id |
121273 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
C12orf54 Gene UCSC Ensembl |
|
Aliases |
HSD-29, HSD-30 |
|
Gene name |
chromosome 12 open reading frame 54 |
|
Alternate names |
uncharacterized protein C12orf54, |
|
Gene location |
12q13.11 (48413153: 48496523) Exons: 9 NC_000012.12
|
Protein Summary
|
| Protein general information
| Q6X4T0
Name: Uncharacterized protein C12orf54
Length: 127 Mass: 14485
|
| Sequence |
MAQHPCQDQEQKVEMTSKQQRSTSIEETMRPQEKQVTITETLWDQVLTVFKDIQKELQEDARIRGMSNCSMTPMT
SAPRTGSIRPPDSLMTPKLRRLQFSSGEQPSGGRIHNLKTQLFSQSAYYPGP
|
| Structural information |
|
| Other Databases |
GeneCards: C12orf54 Malacards: C12orf54 |
|
| Associated diseases |
References |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 23869807 |
Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
|
|
|
20 (4 controls,
16 cases)
|
Male infertility |
GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|