JAKMIP1 Chromosome 4
Janus kinase and microtubule interacting protein 1
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What This Gene Does
Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Smith-Magenis Syndrome-like
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369991878 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1114167350 | Health Risk | Pathogenic | Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like |