MICAL1 Chromosome 6
Microtubule associated monooxygenase, calponin and LIM domain containing 1
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What This Gene Does
This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"LIM domain containing|Bivalent Mical/EHBP Rab binding domain containing|Flavoproteins"
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000135596
Associated Conditions (3)
Epilepsy
familial temporal lobe
1
Key Variants
RS1163458825
Conflicting classifications of pathogenicity
Health Risk
RS1219837301
Conflicting classifications of pathogenicity
Health Risk
RS137916380
Conflicting classifications of pathogenicity
Health Risk
RS141936559
Conflicting classifications of pathogenicity
Health Risk
RS143552986
Conflicting classifications of pathogenicity
Health Risk
RS143598372
Conflicting classifications of pathogenicity
Health Risk
RS144451221
Conflicting classifications of pathogenicity
Health Risk
RS1447618526
Conflicting classifications of pathogenicity
Health Risk
RS146309804
Conflicting classifications of pathogenicity
Health Risk
RS148422524
Conflicting classifications of pathogenicity
Health Risk
RS149468425
Conflicting classifications of pathogenicity
Health Risk
RS149976085
Conflicting classifications of pathogenicity
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1163458825 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1219837301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137916380 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141936559 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143552986 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143598372 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144451221 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1447618526 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146309804 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148422524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149468425 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149976085 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150285580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150739904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150984265 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151074126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS183276533 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199624824 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200911086 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201874487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2482775510 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial temporal lobe, 1 |
| RS368438268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368697503 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746442435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762638415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770312041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775020161 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778850138 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750057550 | Health Risk | Likely pathogenic | — |
| RS775269055 | Health Risk | Likely pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS776954085 | Health Risk | Likely pathogenic | — |
| RS2115340270 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |