| Regulating Pair |
| Introduced Variation |
Mutation (c.468T-A, c.1045_1051delTTTAAGC) of KYNU |
Protein Info
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| Induced Change |
NAD concentration: decrease |
Metabo Info
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| Summary |
Introduced Variation
Induced Change
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| Full List of Experiment(s) Validating This Regulating Pair |
| Details of Experiment for Validating This Pair |
[1] |
| Method |
Quantifying the change of NAD concentration after KYNU mutation (c.468T-A, c.1045_1051delTTTAAGC) through kit detection. |
| Disease Status |
Hereditary methemoglobinemia |
ICD-11: 3A92 |
| Organ/Tissue/Cell Line |
N.A. |
Plasma |
| Subcellular Location |
Cytoplasm (Cytosol) |
| Tested Species |
Species: Homo sapiens (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
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| Details |
It is reported that mutation (c.468T-A, c.1045_1051delTTTAAGC) of KYNU leads to the decrease of NAD levels compared with control group. |
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| References |
| 1 |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
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