GMPPA

Chr 2q35

GDP-mannose pyrophosphorylase A

MANE:: ENST00000313597.10

OMIM: 615495 ↗NCBI: 29926 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GMPPA · Q96IJ6

v62025-08-01

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

Mean pLDDT

93.1/ 100

Very high

420 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)12%
Low(50–70)5%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Familial dysautonomia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Triple A syndrome
0.79
hereditary disease
0.41
triple-A syndrome
0.37
Intellectual disability - alacrima - achalasia
0.37
chromosomal instability with tissue-specific radiosensitivity
0.34
smoking initiation
0.11
amyotrophic lateral sclerosis
0.08
Congenital myasthenic syndromes
0.08
congenital myasthenic syndromes with glycosylation defect
0.07
genetic developmental and epileptic encephalopathy
0.07

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

Protein function (UniProt)

Mannose-1-phosphate guanylyltransferase regulatory subunit alpha

Regulatory subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex; reduces the catalytic activity of GMPPB when part of the complex (PubMed:24035193, PubMed:33986552). Mediates allosteric feedback inhibition of GMPPB catalytic activity upon binding GDP-alpha-D-mannose (PubMed:24035193, PubMed:33986552). Together with GMPPB regulates GDP-alpha-D-mannose levels (PubMed:33986552)