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- Table of Contents
Facts about NAD(P)H-hydrate epimerase.
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Human | |
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Gene Name: | NAXE |
Uniprot: | Q8NCW5 |
Entrez: | 128240 |
Belongs to: |
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NnrE/AIBP family |
NAD(P)H-hydrate epimerase
Mass (kDA):
31.675 kDA
Human | |
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Location: | 1q22 |
Sequence: | 1; NC_000001.11 (156591776..156599818) |
Ubiquitously expressed, with highest levels in kidney, heart and liver. Present in cerebrospinal fluid and urine but not in serum from healthy patients. Present in serum of sepsis patients (at protein level).
Mitochondrion. Secreted. In sperm, secretion gradually increases during capacitation.
PMID: 11991719 by Ritter M., et al. Cloning and characterization of a novel apolipoprotein A-I-binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I.
PMID: 27616477 by Kremer L.S., et al. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood.