ATL1 Chromosome 14
Atlastin GTPase 1
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What This Gene Does
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Atlastins
Locus Type
gene with protein product
Location
14q22.1
Ensembl
ENSG00000198513
Associated Conditions (19)
Hereditary spastic paraplegia 3A
Abnormal pyramidal sign
Inborn genetic diseases
ATL1-related disorder
Hereditary spastic paraplegia
Neuropathy
hereditary sensory
type 1D
Charcot-Marie-Tooth disease
Abnormality of the nervous system
Spastic paraplegia
Accessory ectopic thyroid tissue
Neurodevelopmental delay
ATL1-related spastic paraplegia
recessive
Osteomyelitis leading to amputation due to slow healing fractures
Penetrating foot ulcers
Distal sensory impairment
Distal lower limb muscle weakness
Key Variants
RS1060502971
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Abnormal pyramidal sign, Hereditary spastic paraplegia 3A
Health Risk
RS112496709
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Inborn genetic diseases, Hereditary spastic paraplegia 3A
Health Risk
RS1181733510
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS119476047
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS1395551564
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Inborn genetic diseases, Hereditary spastic paraplegia 3A
Health Risk
RS1402672430
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS144792471
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Inborn genetic diseases, Hereditary spastic paraplegia 3A
Health Risk
RS147839037
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Inborn genetic diseases, ATL1-related disorder
Health Risk
RS1555363969
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS1555364149
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS1555364246
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
RS1595615134
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS864622083 | Health Risk | Pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS119476046 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Neuropathy, hereditary sensory |
| RS119476049 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS119476050 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Inborn genetic diseases, Hereditary spastic paraplegia 3A |
| RS1555365850 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS1555365854 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS1595625099 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia, Hereditary spastic paraplegia 3A |
| RS1595625206 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia, Hereditary spastic paraplegia 3A |
| RS2039539459 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hereditary spastic paraplegia 3A, Inborn genetic diseases |
| RS2140205433 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS864622269 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 3A, Inborn genetic diseases, Hereditary spastic paraplegia |