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 drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| hereditary peripheral neuropathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2023-09-06 |
| Charcot-Marie-Tooth disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2013-01 | |
| Spinal muscular atrophy with respiratory distress type 1 | MedlinePlus related condition | Association type varies; no grade assigned here | View 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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