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Gene id |
54882 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
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Gene Symbol |
ANKHD1 Gene UCSC Ensembl |
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Aliases |
MASK, MASK1, PP2500, VBARP |
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Gene name |
ankyrin repeat and KH domain containing 1 |
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Alternate names |
ankyrin repeat and KH domain-containing protein 1, HIV-1 Vpr-binding ankyrin repeat protein, multiple ankyrin repeats, single KH-domain homolog, |
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Gene location |
5q31.3 (140401813: 140539848) Exons: 35 NC_000005.10
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Gene summary(Entrez) |
This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survi
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OMIM |
601872 |
Protein Summary
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| Associated diseases |
References |
| Spermatogenic defects | MIK: 31037746 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
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28 men with az
oospermia
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Male infertility |
Microarray
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Show abstract |
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