Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.[5][6]

PHKA2
Identifiers
AliasesPHKA2, GSD9A, PHK, PYK, PYKL, XLG, XLG2, phosphorylase kinase regulatory subunit alpha 2
External IDsOMIM: 300798; MGI: 97577; HomoloGene: 246; GeneCards: PHKA2; OMA:PHKA2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000292

NM_001177878
NM_001177879
NM_172783
NM_001358966
NM_001358968

RefSeq (protein)

NP_000283

NP_001171349
NP_001171350
NP_766371
NP_001345895
NP_001345897

Location (UCSC)Chr X: 18.89 – 18.98 MbChr X: 159.29 – 159.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000044446Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031295Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10.1111/j.1399-0004.1990.tb03552.x. PMID 2387090. S2CID 86685815.
  6. ^ "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".

Further reading

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