PGM2L1

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Description

The PGM2L1 (phosphoglucomutase 2 like 1) is a protein-coding gene located on chromosome 11.

Glucose 1,6-bisphosphate synthase uses 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors (PubMed:17804405). In vitro, it also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant (PubMed:17804405).

PGM2L1 is also known as BM32A, NEDHFS, PMMLP.

Associated Diseases

• Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities