CTSA Chromosome 20
Cathepsin A
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What This Gene Does
This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Cathepsins
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000064601
Associated Conditions (17)
Combined deficiency of sialidase AND beta galactosidase
Inborn genetic diseases
GALACTOSIALIDOSIS
EARLY INFANTILE
Cathepsin a-related arteriopathy-strokes-leukoencephalopathy
BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY
Leukodystrophy
Adult-Onset
Acute myeloid leukemia
LATE INFANTILE
Thyroid cancer
nonmedullary
1
Non-immune hydrops fetalis
Malignant tumor of urinary bladder
ADULT
Abnormality of prenatal development or birth
Key Variants
RS1247403237
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS137854547
Conflicting classifications of pathogenicity
GALACTOSIALIDOSIS, EARLY INFANTILE, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS137941635
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS138615064
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS150665171
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
Health Risk
RS181943893
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS2145819152
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY
Health Risk
RS2145824370
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS2145825232
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS371053390
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS374059459
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase
Health Risk
RS543752177
Conflicting classifications of pathogenicity
Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2515432127 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515432357 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515433168 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515433250 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515445661 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515447713 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515448712 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS28934603 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS530287837 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS587779402 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS745743780 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS745838620 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS750928198 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS757912971 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Malignant tumor of urinary bladder, Combined deficiency of sialidase AND beta galactosidase |
| RS758642867 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase |
| RS766114836 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS769812697 | Health Risk | Pathogenic | GALACTOSIALIDOSIS, LATE INFANTILE, Combined deficiency of sialidase AND beta galactosidase |
| RS772210495 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS786200859 | Health Risk | Pathogenic | GALACTOSIALIDOSIS, ADULT, Combined deficiency of sialidase AND beta galactosidase |
| RS875989777 | Health Risk | Pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS1159382283 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS1180450281 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS1189568492 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS1241378191 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS137854541 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS137854543 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS200565348 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of prenatal development or birth, Combined deficiency of sialidase AND beta galactosidase, Abnormality of prenatal development or birth |
| RS2515434546 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515441206 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515441270 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS2515445641 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS767712946 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS771878314 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS979557944 | Health Risk | Pathogenic/Likely pathogenic | Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |