|
Gene id |
84627 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
ZNF469 Gene UCSC Ensembl |
|
Aliases |
BCS, BCS1, Zfp469 |
|
Gene name |
zinc finger protein 469 |
|
Alternate names |
zinc finger protein 469, |
|
Gene location |
16q24.2 (88382958: 88440752) Exons: 4 NC_000016.10
|
|
Gene summary(Entrez) |
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause
|
|
| Associated diseases |
References |
| Brittle cornea syndrome | KEGG:H01902 |
| Brittle cornea syndrome | KEGG:H01902 |
| Cryptorchidism | MIK: 28606200 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|