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Literature summary for 1.1.99.1 extracted from
- Choline dehydrogenase polymorphism rs12676 is a functional variation and is associated with changes in human sperm cell function (2012), PLoS ONE, 7, e36047.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene Chdh, DNA and amino acid sequence determination and analysis, polymorphism rs12676 genotyping, overview | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| G233T | naturally occuring mutation, identificatin of polymorphism rs12676, a non-synonymous SNP located in the CHDH coding region, which is associated with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm, and is associated with increased susceptibility to dietary choline deficiency and risk of breast cancer, phenotye, overview | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
gene Chdh | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| sperm | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| CHDH | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | mutant sperm produced by men who are show polymorphisms rs12676 have 40% and 73% lower ATP concentrations, respectively, in their sperm than controls. Variation rs12676 is associated with decreased CHDH protein in sperm and hepatocytes. A second single-nucleotide polymorphism located in the coding region of IL17BR, rs1025689, is linked to altered sperm motility characteristics and changes in choline metabolite concentrations in sperm | Homo sapiens |
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Release 2023.1 (January 2023)
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