| Description : |
Phosphorylase kinase (Phk) is a complex enzyme consisting of four different subunits, (abgd)4, and isoforms or splice variants exist for each subunit. A muscle specific form of Phk deficiency is caused by mutations in the gene for the muscle isoform of the a subunit, PHKA1, whereas liver Phk deficiency can be caused by mutations in three genes: PHKA2, PHKB, and PHKG2. PHKB mutations cause autosomal recessive Phk deficiency of both liver and muscle, but liver symptoms predominate and the biochemical muscle involvement is often not clinically apparent. Ten different mutations in the PHKB gene have been identified in seven patients. PHKG2, also autosomal, encodes the testis/liver isoform of the catalytic g subunit. PHKG2 is a serine/threonine kinase that plays an important role in glycogen metabolism. Inhibition of PHKG2 may result in recurrent hypoglycemia, liver fibrosis and increased risk of cirrhosis. |
| Source : |
E. coli |
| Species : |
Human |
| Tag : |
GST |
| Protein length : |
1-301 aa |
| Form : |
1.138mg/ml of enzyme in 50mM Tris/HCl pH7.5, 300mM NaCl, 0.1mM EGTA, 0.03% Brij-35, 270mM sucrose, 1mM benzamidine, 0.2mM PMSF, 0.1% 2-mercaptoethanol. Frozen solution. |
| Bio-activity : |
134U/mg, where one unit of PhKγ2, active activity is defined as 1nmol phosphate incorporated into 250μM (KKLNRTLSFAEPG) per minute at 30 centigrade with a final ATP concentration of 100μM. |
| Molecular Mass : |
61.37 kDa |
| AA Sequence : |
1 MSPILGYWKI KGLVQPTRLL LEYLEEKYEE HLYERDEGDK WRNKKFELGL EFPNLPYYID 61 GDVKLTQSMA IIRYIADKHN MLGGCPKERA EISMLEGAVL DIRYGVSRIA YSKDFETLKV 121 DFLSKLPEML KMFEDRLCHK TYLNGDHVTH PDFMLYDALD VVLYMDPMCL DAFPKLVCFK 181 KRIEAIPQID KYLKSSKYIA WPLQGWQATF GGGDHPPKSD LVPRGSPEFM TLDVGPEDEL 241 PDWAAAKEFY QKYDPKDVIG RGVSSVVRRC VHRATGHEFA VKIMEVTAER LSPEQLEEVR 301 EATRRETHIL RQVAGHPHII TLIDSYESSS FMFLVFDLMR KGELFDYLTE KVALSEKETR 361 SIMRSLLEAV SFLHANNIVH RDLKPENILL DDNMQIRLSD FGFSCHLEPG EKLRELCGTP 421 GYLAPEILKC SMDETHPGYG KEVDLWACGV ILFTLLAGSP PFWHRRQILM LRMIMEGQYQ 481 FSSPEWDDRS STVKDLISRL LQVDPEARLT AEQALQHPLF ERCEGSQPWN |
| Purity : |
Purity 89.1% by SDSPAGE and Coomassie blue staining. |
| Applications : |
Drug Discovery & Development |
| Storage : |
6 months at -70 centigrade. |
| Handling Advice : |
Rapidly thaw the vial under cold water and immediately place on ice. Aliquot unused material into prechilled micro-centrifuge tubes and immediately snap-freeze the vials in liquid nitrogen prior to re-storage at -70 centigrade. |
| Use/Stability : |
On receipt of material store at -70 centigrade. Unopened reagent is stable for a minimum of 1 year from date of shipment when stored at recommended storage temperature. Avoid repeat freeze/thaw cycles. For maximum recovery of product, centrifuge original vial prior to removing the cap. |
