CTSF Chromosome 11
Cathepsin F
Upload your DNA to see your personal genotypes for variants in CTSF.
What This Gene Does
Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cathepsins|Elastases"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000174080
Associated Conditions (6)
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 13
Neuronal ceroid lipofuscinosis
CTSF-related disorder
Neurodevelopmental disorder
See cases
Key Variants
RS141345438
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
Health Risk
RS141915593
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS142782021
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13
Health Risk
RS143313688
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder
Health Risk
RS148611356
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder
Health Risk
RS150922871
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
Health Risk
RS180808563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201500574
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13
Health Risk
RS2134950483
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder, Inborn genetic diseases
Health Risk
RS397514733
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 13
Health Risk
RS573483617
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder
Health Risk
RS772656687
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141345438 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases |
| RS141915593 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS142782021 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13 |
| RS143313688 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder |
| RS148611356 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder |
| RS150922871 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS180808563 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201500574 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13 |
| RS2134950483 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder, Inborn genetic diseases |
| RS397514733 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 13 |
| RS573483617 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, CTSF-related disorder |
| RS772656687 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13 |
| RS776443007 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS1051519244 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS1336749001 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1456291681 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13 |
| RS1857984449 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2134949827 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2134954582 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2134954887 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS2495284476 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2495286249 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS746013208 | Health Risk | Likely pathogenic | — |
| RS929020615 | Health Risk | Likely pathogenic | CTSF-related disorder, CTSF-related disorder |
| RS1555058286 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS1565311875 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS1857975142 | Health Risk | Pathogenic | — |
| RS1857975521 | Health Risk | Pathogenic | — |
| RS2495273817 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2495276170 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS375562245 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS397514731 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS397514732 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS753084727 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS758004789 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS766762684 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS797045136 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13 |
| RS2134951897 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |