FUCA1 Chromosome 1
Alpha-L-fucosidase 1
Upload your DNA to see your personal genotypes for variants in FUCA1.
What This Gene Does
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Alpha-L-fucosidases
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000179163
Associated Conditions (5)
Fucosidosis
Inborn genetic diseases
Intellectual disability
FUCA1-related disorder
Abnormality of the nervous system
Key Variants
RS138378067
Conflicting classifications of pathogenicity
Fucosidosis, Inborn genetic diseases, Fucosidosis
Health Risk
RS1395597191
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS140932886
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS145153173
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS1483687600
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS150062050
Conflicting classifications of pathogenicity
Fucosidosis, Intellectual disability, FUCA1-related disorder
Health Risk
RS1639604269
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS199675692
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS2070955
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS370453371
Conflicting classifications of pathogenicity
Fucosidosis, FUCA1-related disorder, Fucosidosis
Health Risk
RS533240590
Conflicting classifications of pathogenicity
Fucosidosis, Inborn genetic diseases, Fucosidosis
Health Risk
RS61996282
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521634585 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521635192 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521730814 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521730880 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521731093 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521745475 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521745643 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521745894 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS2521759907 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS550501788 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS587779398 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS587779399 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS760219584 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS764863416 | Health Risk | Pathogenic | Intellectual disability, Fucosidosis, Intellectual disability |
| RS776324076 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS776845108 | Health Risk | Pathogenic | Fucosidosis, FUCA1-related disorder, Fucosidosis |
| RS781230182 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS794727774 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS80358195 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS80358196 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS80358197 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS80358198 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS941666554 | Health Risk | Pathogenic | Fucosidosis, Fucosidosis |
| RS1334038475 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS1441298926 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS1639669672 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS201499886 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS766794815 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS774846977 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |
| RS864309551 | Health Risk | Pathogenic/Likely pathogenic | FUCA1-related disorder, Fucosidosis, FUCA1-related disorder |
| RS997047045 | Health Risk | Pathogenic/Likely pathogenic | Fucosidosis, Fucosidosis |