SPG21 Chromosome 15
SPG21 abhydrolase domain containing, maspardin
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What This Gene Does
The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
Abhydrolase domain containing
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000090487
Associated Conditions (4)
Mast syndrome
Hereditary spastic paraplegia
SPG21-related disorder
Acute myeloid leukemia
Key Variants
RS115421171
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
RS141785149
Conflicting classifications of pathogenicity
Mast syndrome, Hereditary spastic paraplegia, SPG21-related disorder
Health Risk
RS146092558
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia
Health Risk
RS146986015
Conflicting classifications of pathogenicity
Mast syndrome, Hereditary spastic paraplegia, Mast syndrome
Health Risk
RS149251662
Conflicting classifications of pathogenicity
Mast syndrome, Hereditary spastic paraplegia, Mast syndrome
Health Risk
RS2085872082
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
RS2506113141
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
RS373904630
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia
Health Risk
RS566278586
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
RS746913301
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
RS771940904
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia
Health Risk
RS776641719
Conflicting classifications of pathogenicity
Mast syndrome, Mast syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115421171 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS141785149 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Hereditary spastic paraplegia, SPG21-related disorder |
| RS146092558 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia |
| RS146986015 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Hereditary spastic paraplegia, Mast syndrome |
| RS149251662 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Hereditary spastic paraplegia, Mast syndrome |
| RS2085872082 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS2506113141 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS373904630 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia |
| RS566278586 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS746913301 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS771940904 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Mast syndrome, Hereditary spastic paraplegia |
| RS776641719 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS879839698 | Health Risk | Conflicting classifications of pathogenicity | Mast syndrome, Mast syndrome |
| RS1386151123 | Health Risk | Likely pathogenic | Mast syndrome, Mast syndrome |
| RS2140415380 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2140441397 | Health Risk | Likely pathogenic | Mast syndrome, Mast syndrome |
| RS755390093 | Health Risk | Likely pathogenic | Mast syndrome, Hereditary spastic paraplegia, SPG21-related disorder |
| RS2140427422 | Health Risk | Pathogenic | Mast syndrome, Mast syndrome |
| RS2506123834 | Health Risk | Pathogenic | Mast syndrome, Mast syndrome |
| RS2506123909 | Health Risk | Pathogenic | Mast syndrome, Mast syndrome |
| RS387906275 | Health Risk | Pathogenic | Mast syndrome, Hereditary spastic paraplegia, Mast syndrome |
| RS587777315 | Health Risk | Pathogenic | Mast syndrome, Mast syndrome |
| RS970163893 | Health Risk | Pathogenic | Mast syndrome, Mast syndrome |
| RS1332886505 | Health Risk | Pathogenic/Likely pathogenic | Mast syndrome, Mast syndrome |
| RS369957508 | Health Risk | Pathogenic/Likely pathogenic | Mast syndrome, Mast syndrome |
| RS555126484 | Health Risk | Pathogenic/Likely pathogenic | Mast syndrome, Hereditary spastic paraplegia, Mast syndrome |