MICALL2 Chromosome 7
MICAL like 2
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What This Gene Does
Enables filamin binding activity. Involved in positive regulation of protein targeting to mitochondrion. Predicted to be located in several cellular components, including bicellular tight junction; recycling endosome; and stress fiber. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"LIM domain containing|Bivalent Mical/EHBP Rab binding domain containing"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000164877
Associated Conditions (1)
Joubert syndrome 1
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS187391312 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200086992 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556808514 | Health Risk | Pathogenic | Joubert syndrome 1, Joubert syndrome 1 |