MFF Chromosome 2
Mitochondrial fission factor
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What This Gene Does
This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Associated Conditions (4)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Inborn genetic diseases
Global developmental delay
Mitochondrial encephalomyopathy
Key Variants
RS145143758
Conflicting classifications of pathogenicity
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS151315304
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752060091
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1574886182
Likely pathogenic
Health Risk
RS747892565
Likely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS749103517
Likely pathogenic
Health Risk
RS868706737
Likely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS1285225437
Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS1334838296
Pathogenic
Health Risk
RS2075318017
Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS753829320
Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
RS879255690
Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145143758 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS151315304 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752060091 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1574886182 | Health Risk | Likely pathogenic | — |
| RS747892565 | Health Risk | Likely pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS749103517 | Health Risk | Likely pathogenic | — |
| RS868706737 | Health Risk | Likely pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS1285225437 | Health Risk | Pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS1334838296 | Health Risk | Pathogenic | — |
| RS2075318017 | Health Risk | Pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS753829320 | Health Risk | Pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS879255690 | Health Risk | Pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS886037862 | Health Risk | Pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| RS397514615 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Global developmental delay, Mitochondrial encephalomyopathy |