CTSF Chromosome 11

Cathepsin F
38 variants 38 Health Risk

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
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