PEX14 deficiency (Q97740): Difference between revisions
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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. |
