|Institutional Source||Beutler Lab|
|Gene Name||liver glycogen phosphorylase|
|Essential gene?||Possibly non essential (E-score: 0.387)|
|Stock #||R7637 (G1)|
|Chromosomal Location||70190811-70231488 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||C to T at 70197795 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000125585 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pygl||
(F):5'- TCCTCACTTGGATGCCTTGG -3'
(R):5'- GACATCACAGAACCTGGGTC -3'
(F):5'- TGTCTGCTGGAGCCCAAATC -3'
(R):5'- ATCACAGAACCTGGGTCCTTGG -3'