PEX14 deficiency (Q97740): Difference between revisions
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Refere-se à deficiência da proteína que em humanos é codificada pelo gene PEX14. Este gene codifica um componente essencial da maquinaria de importação peroxissomal. A proteína é integrada às membranas do peroxissoma com seu terminal C exposto ao citosol e interage com o receptor citosólico de proteínas contendo um sinal de direcionamento peroxissomal PTS1. | |||||||||||||||
| description / en | description / en | ||||||||||||||
This refers to the deficiency in the protein that in humans is encoded by the PEX14 gene. This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1699637272 / rank | |||||||||||||||
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CID11:ID_1699637272 | |||||||||||||||
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dki-india-ID_1699637272 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1699637272 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 13:52, 16 August 2026
This refers to the deficiency in the protein that in humans is encoded by the PEX14 gene. This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1699637272 |
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| English | PEX14 deficiency |
This refers to the deficiency in the protein that in humans is encoded by the PEX14 gene. This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. |
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CID11:ID_1699637272
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dki-india-ID_1699637272
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Concluído
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15 August 2026
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