PGM3 gene

phosphoglucomutase 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

From UniProt:

Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

From NCBI Gene:

  • Immunodeficiency 23

From UniProt:

Immunodeficiency 23 (IMD23): A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. [MIM:615816]

Cytogenetic Location: 6q14.1-q15, which is the long (q) arm of chromosome 6 between positions 14.1 and 15

Molecular Location: base pairs 83,150,728 to 83,193,936 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q14.1-q15, which is the long (q) arm of chromosome 6 between positions 14.1 and 15
  • AGM1
  • IMD23
  • PAGM
  • PGM 3