Ask about this productRelated genes to: PHKG2 antibody
- Gene:
- PHKG2 NIH gene
- Name:
- phosphorylase kinase catalytic subunit gamma 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 16p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-06-18
- Date modifiied:
- 2016-05-16
Related products to: PHKG2 antibody
Related articles to: PHKG2 antibody
- Type 2 diabetes (T2D) is a challenge for the healthcare system. It is a metabolic disease with increased blood sugar with severe complications when it becomes uncontrolled. These complications include diabetic nephropathy (DN), neuropathy, retinopathy neuropathy, and cardiovascular diseases (CVDs). T2D is induced by genetic, environmental, and lifestyle risk factors. Therefore, it is vital to distinguish between genetic risk loci for T2D and those that specifically predispose patients to DN, which may eventually facilitate personalized risk assessment and informed genetic counseling once these markers are clinically validated. The aim of this pilot study was to examine the candidate genes associated with DN using whole-exome sequencing (WES). - Source: PubMed
Publication date: 2026/03/26
Mir RashidElfaki ImadeldinAlmassabi Rehab FAlmowallad SanaaElnageeb Mohamed EMirghani Hyder OsmanAlbalawi WedAlbalawi Aziz DhaherAltemani Faisal HBarnawi JameelTayeb Faris JMoawadh MamdohBedaiwi Ruqaiah IAlanazi Mohammad A - Glycogen storage diseases (GSDs) are a group of inherited disorders caused by enzyme or transport protein defects that affect glycogen metabolism, leading to glycogen accumulation in tissues and overlapping clinical symptoms. This study aimed to identify pathogenic genetic variants in Iranian patients suspected of having GSDs and to characterize novel variants. Whole-exome sequencing was performed on 20 patients from consanguineous families, revealing 12 known and three novel pathogenic variants. Novel variants included a homozygous frameshift variant in SLC37A4 in a GSD-Ib patient, a homozygous frameshift variant in GAA in a GSD-II patient, and a homozygous nonsense variant in PHKG2 in a GSD-IXc patient. In silico analyses and structural modelling suggested these variants disrupt protein function, with two variants triggering nonsense-mediated decay and one causing protein truncation. These findings expand the genetic spectrum of GSDs in the Iranian population and highlight the importance of early molecular diagnosis and genetic counselling, especially in consanguineous communities, to improve patient management and prognosis. - Source: PubMed
Publication date: 2026/01/29
Alian FatemehStraub VolkerTöpf AnaSeyedarabi ArefehHashemipour MahinInanlooRahatloo KolsoumSalehi MansoorRostampour Noushin - Glycogen storage disease type IX (GSD IX) arises from hepatic phosphorylase b kinase (PhK) deficiency attributable to pathogenic variants in the PHKA2, PHKB, and PHKG2 genes. This multicenter retrospective study evaluated clinical and biochemical data from 52 patients diagnosed across three European countries, with a median follow-up of 9.3 years (range: 1-49). In the cohort, 86.5% were classified as GSD IXa, whereas GSD IXb and IXc accounted for 7.7% and 3.8%, respectively; one diagnosis was based solely on enzymatic testing. Null variants in PHKA2 consistently resulted in severe PhK deficiency, whereas missense variants and in-frame deletions were associated with variable enzymatic impairment (8/19 tested cases). The median age at symptom onset was 1.6 years, and the mean age at diagnosis was 2.0 years. Predominant manifestations included hepatomegaly (82%), elevated aminotransferases (81%), hypertriglyceridemia (71%), hypercholesterolemia (67%), hypoglycemia (46%), hyperlactatemia (38%), and short stature (30%). Aberrant apolipoprotein C-III glycosylation was detected in 80% of analyzed samples. Nutritional intervention was associated with improved growth (height SD score - 0.8 ± 1.3 vs -0.2 ± 1.65; = 0.031) and fewer documented fasting hypoglycemia episodes (20/44 vs 9/44; = 0.012), although hepatomegaly frequently persisted. Liver biopsies showed steatosis, fibrosis, and/or chronic hepatitis in 52% of examined cases. A single hepatic adenoma was identified in a 14-year-old male. Overall, the clinical course of GSD IX was favorable, with hepatomegaly, elevated liver enzymes, and dyslipidemia as the most prevalent features. Severe hypoglycemic episodes were uncommon, and no clear genotype-phenotype correlation emerged. - Source: PubMed
Publication date: 2026/02/14
Magner MartinŠáhó RobertSlavíková PetraBakaľár RadovanDvořáková LenkaPešková KarolínaRamadža Danijela PetkovićBarić IvoIlic NikolaČechová AnnaŘeboun MartinVlášková HanaKelifová SilvieJešina PavelProcházková DagmarHansíková HanaHonzík TomášZeman Jiří - Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to better understand both how splice altering variants contribute to Mendelian disease and how to identify such mechanisms via an instrumental case study of 2 siblings with glycogen storage disease (GSD) IX γ2. - Source: PubMed
Publication date: 2025/11/15
Iyengar Apoorva KZou XueDai JianFrancis Rhodricia ASafi AlexiasPatterson KarynneKoch Rebecca LClarke ShannonBeaman M MakenzieMohan ShruthiChong Jessica XBamshad Michael JMajoros William HRehder R CatherineBali Deeksha SAllen Andrew SCrawford Gregory EKishnani Priya SReddy Timothy E - Glycogen storage disease type IXc (GSD IXc) is an ultra-rare disorder impairing liver glycogen degradation, caused by a defect in phosphorylase kinase (PhK) γ subunit in the liver encoded by PHKG2. We aim to investigate the clinical, biochemical, genetic, therapeutic, and follow-up characteristics of 17 GSD IXc patients. - Source: PubMed
Publication date: 2025/12/25
Sun ChengkaiDu TaoziXia YuJiang LuLuSun ManqingLiang LiliZhang KaichuangYang YiSun YuningWang RuifangSun YuXiao BingQiu Wenjuan