Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5255
MIM: 311870
HGNC: 8925
Ensembl: ENSG00000067177
Variants:
dbSNP: 5255
ClinVar: 5255
TCGA: ENSG00000067177
COSMIC: PHKA1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33799212 | 2021 | A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. | 3 |
| 33799212 | 2021 | A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. | 3 |
| 22238410 | 2012 | Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? | 16 |
| 22238410 | 2012 | Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? | 16 |
| 18401027 | 2008 | Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? | 15 |
| 18401027 | 2008 | Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? | 15 |
| 12876330 | 2003 | Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. | 11 |
| 12876330 | 2003 | Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. | 11 |
Citation
Dessen P
PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71887/phka1-(phosphorylase-kinase-regulatory-subunit-alpha-1)
