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Gene id |
51652 |
| Gene Summary Protein Summary KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
CHMP3 Gene UCSC Ensembl |
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Aliases |
CGI-149, NEDF, VPS24 |
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Gene name |
charged multivesicular body protein 3 |
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Alternate names |
charged multivesicular body protein 3, 25.1 protein, CHMP family, member 3, chromatin-modifying protein 3, neuroendocrine differentiation factor, vacuolar protein sorting 24 homolog, vacuolar protein sorting-associated protein 24, |
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Gene location |
2p11.2 (86563442: 86503429) Exons: 6 NC_000002.12
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Gene summary(Entrez) |
This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds
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Protein Summary
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| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28606200 |
Cryptorchi
dism
|
|
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Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
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Male infertility |
MeDIP-Seq
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Show abstract |
| 28361989 |
Hyposperma
togenesis
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|
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6 (3 controls,
3 Klienfelter s
yndrome
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Male infertility |
Microarray
|
Show abstract |
|