|
Gene id |
139212 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PIH1D3 Gene UCSC Ensembl |
|
Aliases |
CILD36, CXorf41, DNAAF6, NYSAR97, TWISTER |
|
Gene name |
PIH1 domain containing 3 |
|
Alternate names |
protein PIH1D3, PIH1 domain-containing protein 3, dynein axonemal assembly factor 6, sarcoma antigen NY-SAR-97, |
|
Gene location |
Xq22.3 (107206610: 107244246) Exons: 8 NC_000013.11
|
|
OMIM |
300933 |
|
| Associated diseases |
References |
| Primary ciliary dyskinesia | KEGG: H00564 |
| Contributes to cytoplasmic preassembly of dynein complexes in spermatogenic cells | MIK: 24421334 |
| Contributes to cytoplasmic preassembly of dynein complexes in spermatogenic cells | MIK: 24421334 |
| Primary ciliary dyskinesia (PCD) and male infertility | MIK: 32170493 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24421334 |
Contribute
s to cytop
lasmic pre
assembly o
f dynein c
omplexes i
n spermato
genic cell
s
|
|
|
|
Male infertility |
|
Show abstract |
| 32170493 |
Primary ci
liary dysk
inesia (PC
D) and mal
e infertil
ity
|
c.319_329del: p.R107fs, c.290G>T: p.G97V |
Chinese
|
2 families, 442
individuals (2
19 with isolate
d oligoasthenos
permia and 223
fertile control
s)
|
Male infertility |
NGS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|