|
Gene id |
89765 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RSPH1 Gene UCSC Ensembl |
|
Aliases |
CT79, RSP44, RSPH10A, TSA2, TSGA2 |
|
Gene name |
radial spoke head component 1 |
|
Alternate names |
radial spoke head 1 homolog, cancer/testis antigen 79, male meiotic metaphase chromosome-associated acidic protein, meichroacidin, testes specific gene A2 homolog, testis specific A2 homolog, |
|
Gene location |
21q22.3 (42496245: 42472485) Exons: 9 NC_000002.12
|
|
Gene summary(Entrez) |
This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary
|
|
OMIM |
609314 |
|
| Associated diseases |
References |
| Primary ciliary dyskinesia | KEGG: H00564 |
| Associated with sperm motility and sperm-egg interaction abnormalities | MIK: 16354795 |
| Spermatogenic defects | MIK: 16354795 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16354795 |
Associated
with sper
m motility
and sperm
-egg inter
action abn
ormalities
|
|
|
|
Male infertility |
|
Show abstract |
|