rs147540336
This variant is located in the PGM1 gene.
▶ClinVar annotation
PGM1-congenital disorder of glycosylation; PGM1-related disorder
View on ClinVar →About PGM1
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
View all PGM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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