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Phosphorylase kinase, alpha 1

PHKA1, PHKA
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] (from NCBI)
Top mentioned proteins: PHKA2, PHKB, CAN, myophosphorylase, HAD
Papers on PHKA1
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Review
Al-Owain et al., Kuwait, Kuwait. In Eur J Pediatr, 2014
Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase.
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Zhang et al., Houston, United States. In Genet Med, 2013
METHODS: A massively parallel sequencing test was developed for simultaneous sequencing of 16 genes known to cause muscle and liver forms of glycogen storage diseases: GYS2, GYS1, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PHKA1, PGAM2, and PGM1.
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
GeneRIF
Vissing et al., Denmark. In Neurology, 2012
muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle
Phosphorylase Kinase Deficiency
Review
Bali et al., Seattle, United States. In Unknown Journal, 2011
Mutations in PHKA1, encoding subunit α, cause the rare X-linked disorder muscle PhK deficiency; mutations in PHKA2, also encoding subunit α, cause the most common form, liver PhK deficiency (X-linked liver glycogenosis); mutations in PHKB, encoding subunit β, cause autosomal recessive PhK deficiency in both liver and muscle; and mutations in PHKG2, encoding subunit γ, cause autosomal recessive liver PhK deficiency.
Muscle phosphorylase b kinase deficiency revisited.
Dimauro et al., Strasbourg, France. In Neuromuscul Disord, 2010
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK.
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
GeneRIF
Vissing et al., Copenhagen, Denmark. In Neurology, 2008
X-linked PHK deficiency causes a mild metabolic myopathy with blunted muscle glycogen breakdown and impaired lactate production during dynamic exercise, which impairs oxidative capacity only marginally
Gastrointestinal stromal tumors in children and young adults: a clinicopathologic, molecular, and genomic study of 15 cases and review of the literature.
Review
Antonescu et al., New York City, United States. In J Pediatr Hematol Oncol, 2005
Gene expression analysis showed high expression of PHKA1, FZD2, NLGN4, IGF1R, and ANK3 in the pediatric and young adult versus older adult cases.
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
Martin et al., Antwerp, Belgium. In Am J Med Genet A, 2005
Until today, only a few cases of myopathy associated with muscle PhK deficiency caused by a mutation in the gene encoding the alpha subunit of phosphorylase kinase (PHKA1) have been reported.
Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
GeneRIF
Pallen, Birmingham, United Kingdom. In Protein Sci, 2003
alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Kilimann et al., Bochum, Germany. In Eur J Hum Genet, 2003
In two patients and in a mouse mutant with muscle Phk deficiency, mutations were previously found in the muscle isoform of the Phk alpha subunit, encoded by the X-chromosomal PHKA1 gene (MIM # 311870).
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
Chelly et al., Paris, France. In Genomics, 2000
In addition to mapping of the brain-specific gene (NAP1L2) and the phosphoglyceryl kinase alpha subunit 1 gene (PHKA1) and generation and mapping of a large number of STSs throughout the contig, we have mapped a putative transcriptional regulatory protein (HDACL1), and 35 ESTs.
A linkage map of the ovine X chromosome.
Hill et al., Dunedin, New Zealand. In Genome Res, 1996
In particular, the conserved grouping of the genes PHKA1, ATP7A, and XIST observed in both the human and the mouse X chromosome appears to be conserved in the sheep X chromosome, and XIST has been mapped to near the center of the chromosome.
Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
Kilimann et al., Bochum, Germany. In Hum Genet, 1995
A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1).
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.
Jeppesen et al., Baltimore, United States. In Am J Hum Genet, 1994
Analyses of hybrid cells show that TIMP, ZXDA, and ZXDB loci on the proximal short arm, and AR and PHKA1 loci on the long arm, are well expressed from the tiny ring X chromosome lacking XIST DNA.
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
Willard et al., Cleveland, United States. In Hum Mol Genet, 1993
These YACs form a 2.6 Mb contig which completely covers the XIC, and physically links the RPS4X, PHKA1, XIST, and DXS128E genes, as well as a laminin receptor pseudogene (LAMRP4).
Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosome.
Barnard et al., Cambridge, United Kingdom. In Genomics, 1993
We recently mapped the muscle alpha-subunit gene (Phka) to the mouse X chromosome in a region syntenic with the proximal long arm of the human X chromosome and containing the human homologue of this gene, PHKA.
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