IGHMBP2

Immune System · Immunoglobulin & T-Cell Receptor Gene Segments

Why can IGHMBP2 matter even though its name sounds immune-specific?

IGHMBP2 makes an enzyme that helps unwind nucleic-acid structures. That cellular function is not limited to immunity, so the name alone should not determine which tissues or disorders are relevant.

Common Gene Name
immunoglobulin mu DNA binding protein 2
NCBI Gene ID
3508
Chromosome
11

Clinical Evidence Status

Established disease relationship

These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.

Answer Sources

Explore supporting evidence (3 records)
Condition or drugEvidenceGrade / statusContextSource
hereditary peripheral neuropathyClinGen gene-disease validityDefinitiveAutosomal recessiveView source
2023-09-06
Charcot-Marie-Tooth diseaseMedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2013-01
Spinal muscular atrophy with respiratory distress type 1MedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2013-01

Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.

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