PGM2L1

Chr 11q13.4

phosphoglucomutase 2 like 1

Aliases:: FLJ32029, BM32A
MANE:: ENST00000298198.5

OMIM: 611610 ↗NCBI: 283209 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PGM2L1 · Q6PCE3

v62025-08-01

Predicted Aligned Error matrix for PGM2L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.4/ 100

Very high

622 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)5%
Low(50–70)1%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
0.67
hereditary disease
0.41
neurodevelopmental disorder
0.37
complex neurodevelopmental disorder
0.37
response to xenobiotic stimulus
0.23
ovarian neoplasm
0.23
poisoning
0.23
placental retention
0.15
cholangiocarcinoma
0.07
Alzheimer disease
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glucose 1,6-bisphosphate synthase

Glucose 1,6-bisphosphate synthase using 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, also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant (PubMed:17804405)