|
Gene id |
56342 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PPAN Gene UCSC Ensembl |
|
Aliases |
BXDC3, SSF, SSF-1, SSF1, SSF2 |
|
Gene name |
peter pan homolog |
|
Alternate names |
suppressor of SWI4 1 homolog, brix domain-containing protein 3, homolog of S. cerevisiae SSF1, second-step splicing factor 1, suppressor of sterile four 1, |
|
Gene location |
19p13.2 (10106222: 10112011) Exons: 11 NC_000019.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are
|
|
OMIM |
607793 |
Protein Summary
|
|
| Associated diseases |
References |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
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 |
|