Methylmalonate semialdehyde dehydrogenase deficiency (Q86135): Difference between revisions
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Refere-se à deficiência de uma enzima que em humanos é codificada pelo gene ALDH6A1. Esta proteína pertence à família de proteínas aldeído desidrogenases. Esta enzima desempenha um papel nas vias catabólicas da valina e da pirimidina. | |||
| description / en | description / en | ||
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. | |||
Revision as of 11:29, 15 August 2026
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1700759193 |
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| English | Methylmalonate semialdehyde dehydrogenase deficiency |
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. |
