FBXO38 Chromosome 5
F-box protein 38
Upload your DNA to see your personal genotypes for variants in FBXO38.
What This Gene Does
This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
F-boxes other
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000145868
Associated Conditions (5)
Distal hereditary motor neuropathy type 2
Neuronopathy
distal hereditary motor
type 2D
FBXO38-related disorder
Key Variants
RS112086763
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS144890577
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS146510581
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS148337492
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2D
Health Risk
RS150893158
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, FBXO38-related disorder, Distal hereditary motor neuropathy type 2
Health Risk
RS183483408
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS199901955
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS200187682
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS201279543
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS201279960
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS201999494
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
RS370471937
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112086763 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor |
| RS144890577 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS146510581 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS148337492 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2D |
| RS150893158 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, FBXO38-related disorder, Distal hereditary motor neuropathy type 2 |
| RS183483408 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS199901955 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS200187682 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS201279543 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS201279960 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor |
| RS201999494 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS370471937 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS371555180 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS376255193 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2D |
| RS750935580 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS751242312 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS751449877 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS757930681 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2 |
| RS758909222 | Health Risk | Conflicting classifications of pathogenicity | Distal hereditary motor neuropathy type 2, Neuronopathy, distal hereditary motor |
| RS398122838 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 2D |
| RS762262985 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 2D |