PHKA2 Antibody

1. Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots. PMID: 28627441
2. In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion. PMID: 27103379
3. The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis. PMID: 21857251
4. We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect PMID: 21911307
5. two novel mutations found in two GSD type IX patients with different residual enzyme activities PMID: 21131218
6. Gene analysis was confirmed to represent a useful procedure for diagnosing x-linked liver glycogenosis, for which liver biopsy had previously been required to detect hepatic phosphorylase kinase deficiency PMID: 12862311
7. Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 is associated with X-linked liver glycogenosis PMID: 17581768
8. Results show that phosphorylase kinase (PhK) alpha subunit missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha functions. PMID: 18950708

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HGNC: 8926

OMIM: 300798

KEGG: hsa:5256

STRING: 9606.ENSP00000369274

UniGene: Hs.54941