| Regulating Pair |
| Introduced Variation |
Mutation (patients: c.454dup (p.Thr152Asnfs*39)) of GRHPR |
Protein Info
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| Induced Change |
Cystine concentration: increase |
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 L-cystine concentration after GRHPR mutation (patients: c.454dup (p.Thr152Asnfs39)) through HPLC based metabolomics. |
| Disease Status |
Carbohydrate metabolism disorders |
ICD-11: 5C51 |
| Organ/Tissue/Cell Line |
N.A. |
Urine |
| Subcellular Location |
Cytoplasm (Cytosol; Extracellular exosome; Peroxisomal matrix) |
| 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 (patients with c.454dup (p.Thr152Asnfs*39)) of GRHPR leads to the increase of cystine levels compared with control group. |
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| References |
| 1 |
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. BMC Med Genet. 2017 May 31;18(1):59.
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