MYORG

Chr 9AR

myogenesis regulating glycosidase

Also known as: IBGC7, KIAA1161, NET37

NCBI Gene: 57462ENSG00000164976UniProt: Q6NSJ0OMIM: 618255

The protein is an alpha-galactosidase with unusual specificity for Gal-alpha1,4-Glc structures and promotes myogenesis by activating AKT signaling through IGF2 maturation and secretion. Mutations cause basal ganglia calcification, idiopathic, 7, which follows autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants (pLI near zero), suggesting haploinsufficiency is well-tolerated.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.341 OMIM phenotype
Clinical Summary— MYORG
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.34LOEUF
pLI 0.000
Z-score 0.40
OE 0.90 (0.62–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.39Z-score
OE missense 0.83 (0.77–0.90)
436 obs / 525.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.90 (0.62–1.34)
0≤0.351.4
Missense OE0.83 (0.77–0.90)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 18 / 19.9Missense obs/exp: 436 / 525.7Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYORG · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A patient with a MYORG variant in primary brain calcification has rapid clinical course and increased calcification volume on an image analyzer.
Hozumi I et al.·Clin Neurol Neurosurg
2025
[A case report of a family with Primary familial brain calcification caused by a novel MYORG gene variants].
Xia E et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025Case report
Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).
Soleimani P et al.·Neurol Sci
2025Cohort
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
Hobara T et al.·Acta Neuropathol Commun
2024Open Access
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Zhao T et al.·Mol Genet Genomic Med
2023Open AccessReview
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients