PHKA2
































































PHKA2
Identifiers
Aliases
PHKA2, GSD9A, PHK, PYK, PYKL, XLG, XLG2, phosphorylase kinase regulatory subunit alpha 2
External IDs MGI: 97577 HomoloGene: 246 GeneCards: PHKA2


















Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]

X chromosome (human)
Genomic location for PHKA2

Genomic location for PHKA2

Band Xp22.13 Start 18,892,300 bp[1]
End 18,984,598 bp[1]























RNA expression pattern

PBB GE PHKA2 209438 at fs.png

PBB GE PHKA2 209439 s at fs.png
More reference expression data















Orthologs
Species Human Mouse
Entrez


5256


110094
Ensembl


ENSG00000044446


ENSMUSG00000031295
UniProt


P46019


Q8BWJ3
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 Mb Chr X: 160.5 – 160.6 Mb

PubMed search		 [3] [4]
Wikidata



View/Edit Human View/Edit Mouse

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



References





  1. ^ abc GRCh38: Ensembl release 89: ENSG00000044446 - Ensembl, May 2017


  2. ^ abc GRCm38: Ensembl release 89: ENSMUSG00000031295 - Ensembl, May 2017


  3. ^ "Human PubMed Reference:"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output .citation q{quotes:"""""""'""'"}.mw-parser-output .citation .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-limited a,.mw-parser-output .citation .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/4/4c/Wikisource-logo.svg/12px-Wikisource-logo.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-maint{display:none;color:#33aa33;margin-left:0.3em}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}


  4. ^ "Mouse PubMed Reference:".


  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.


  6. ^ "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".




Further reading


.mw-parser-output .refbegin{font-size:90%;margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{list-style-type:none;margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li,.mw-parser-output .refbegin-hanging-indents>dl>dd{margin-left:0;padding-left:3.2em;text-indent:-3.2em;list-style:none}.mw-parser-output .refbegin-100{font-size:100%}



  • Davidson JJ, Ozçelik T, Hamacher C, et al. (1992). "cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2096–100. doi:10.1073/pnas.89.6.2096. PMC 48603. PMID 1372435.


  • Wauters JG, Bossuyt PJ, Davidson J, et al. (1992). "Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp". Cytogenet. Cell Genet. 60 (3–4): 194–6. doi:10.1159/000133334. PMID 1505214.


  • Daube H, Billich A, Mann K, Schramm HJ (1991). "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease". Biochem. Biophys. Res. Commun. 178 (3): 892–8. doi:10.1016/0006-291X(91)90975-D. PMID 1872871.


  • Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur. J. Pediatr. 149 (4): 268–71. doi:10.1007/BF02106291. PMID 2303074.


  • Huijing F, Fernandes J (1969). "X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency". Am. J. Hum. Genet. 21 (3): 275–84. PMC 1706412. PMID 5306139.


  • Hirono H, Hayasaka K, Sato W, et al. (1995). "Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency". Biochem. Mol. Biol. Int. 36 (3): 505–11. PMID 7549948.


  • Hendrickx J, Coucke P, Dams E, et al. (1995). "Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease". Hum. Mol. Genet. 4 (1): 77–83. doi:10.1093/hmg/4.1.77. PMID 7711737.


  • van den Berg IE, van Beurden EA, Malingré HE, et al. (1995). "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit". Am. J. Hum. Genet. 56 (2): 381–7. PMC 1801119. PMID 7847371.


  • Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993). "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution". J. Biol. Chem. 268 (31): 23208–14. PMID 8226841.


  • Hendrickx J, Coucke P, Bossuyt P, et al. (1993). "X-linked liver glycogenosis: localization and isolation of a candidate gene". Hum. Mol. Genet. 2 (5): 583–9. doi:10.1093/hmg/2.5.583. PMID 8518797.


  • Hendrickx J, Dams E, Coucke P, et al. (1997). "X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase". Hum. Mol. Genet. 5 (5): 649–52. doi:10.1093/hmg/5.5.649. PMID 8733133.


  • Burwinkel B, Shin YS, Bakker HD, et al. (1997). "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)". Hum. Mol. Genet. 5 (5): 653–8. doi:10.1093/hmg/5.5.653. PMID 8733134.


  • Burwinkel B, Amat L, Gray RG, et al. (1998). "Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene". Hum. Genet. 102 (4): 423–9. doi:10.1007/s004390050715. PMID 9600238.


  • Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1999). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur. J. Pediatr. 157 (11): 919–23. doi:10.1007/s004310050967. PMID 9835437.


  • Hendrickx J, Lee P, Keating JP, et al. (1999). "Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II". Am. J. Hum. Genet. 64 (6): 1541–9. doi:10.1086/302399. PMC 1377897. PMID 10330341.


  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.


  • Ban K, Sugiyama K, Goto K, et al. (2004). "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency". Tohoku J. Exp. Med. 200 (1): 47–53. doi:10.1620/tjem.200.47. PMID 12862311.


  • Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase". Protein Sci. 12 (8): 1804–7. doi:10.1110/ps.0371103. PMC 2323967. PMID 12876330.


  • Johnson JM, Castle J, Garrett-Engele P, et al. (2004). "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays". Science. 302 (5653): 2141–4. doi:10.1126/science.1090100. PMID 14684825.




External links


  • GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX










-

這個網誌中的熱門文章

12.7 cm/40 Type 89 naval gun

圖片
12.7 cm/40 Type 89 naval gun Type 89 gun mounted on Chitose Type Naval gun anti-aircraft gun Place of origin Japan Service history In service 1932–45 Used by Imperial Japanese Navy Wars World War II Production history Designed 1928–32 Produced 1932–45 No.  built ~1500 Variants Type 88 Specifications Mass 3,100 kilograms (6,834 lb) Barrel length 5,080 millimeters (16 ft 8 in) (bore length) Shell Fixed Shell weight 20.9–23.45 kilograms (46.1–51.7 lb) Caliber 12.7-centimeter (5.0 in) Breech horizontal breech block Elevation -8° to +90° [1] Rate of fire 8-14 rounds per minute Muzzle velocity 720–725 meters per second (2,360–2,380 ft/s) Maximum firing range 9,440 meters (30,970 ft) at 90° (AA ceiling) 14,800 meters (48,600 ft) at 45° The 12.7 cm/40 Type 89 naval gun was a Japanese anti-aircraft (AA) gun introduced before World War II. It was the Imperial Japanese Navy's standard heavy AA...
閱讀完整內容

Lanžov

圖片
Lanžov — gmina — Państwo   Czechy Kraj hradecki Powiat Trutnov Kraina Czechy Powierzchnia 7,92 km² Populacja  (2014) • liczba ludności 186 [1] Kod pocztowy 544 52 Szczegółowy podział administracyjny Liczba obrębów ewidencyjnych 4 Liczba części gminy 5 Liczba gmin katastralnych 2 Położenie na mapie kraju hradeckiego Lanžov Położenie na mapie Czech Lanžov 50°23′N   15°46′E / 50,386944   15,760833 Multimedia w Wikimedia Commons Strona internetowa Portal Czechy Lanžov – gmina w Czechach, w powiecie Trutnov, w kraju hradeckim. Według danych z dnia 1 stycznia 2014 liczyła 186 mieszkańców [1] . Przypisy | ↑ a b Počty obyvatel v obcích k 1. 1. 2013 ( cz. ) . www.mvcr.cz. [dostęp 2014-08-23]. p   •   d   •   e Powiat Trutnov Batňovice Bernartice Bílá Třemešná Bílé Poličany Borovnice Borovnička Čermná Černý Důl Dolní Branná Dolní...
閱讀完整內容

Rikitea

圖片
Town in French Polynesia, France Rikitea Town Rikitea Location in French Polynesia Coordinates: 23°7′13″S 134°58′9″W  /  23.12028°S 134.96917°W  / -23.12028; -134.96917 Coordinates: 23°7′13″S 134°58′9″W  /  23.12028°S 134.96917°W  / -23.12028; -134.96917 Country   France Overseas collectivity   French Polynesia Territory Gambier Islands Island Mangareva Rikitea is a small town on Mangareva, which is part of the Gambier Islands in French Polynesia. A majority of the islanders live in Rikitea. [1] [2] The island was a protectorate of France in 1871 and was annexed in 1881. [3] Contents 1 History 2 Geography 3 Economy 4 Landmarks 5 Transportation 6 References 7 Bibliography 8 External links History The town's history dates to the era when the island was first settled with people from the Marquesas Islands in 1100 AD. Captain James Wilson of the London Missionary Society arrived in 1797 on Du...
閱讀完整內容