CTSF

Curated reports relevant to this gene

• Neuronal Ceroid Lipofuscinosis

  • Autosomal recessive

    A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

    • ClinGen rates the link definitive
    • 4 GenCC submitters rate it definitive or strong

Broader groupings

• Inherited Neurodegenerative Disorders

  • KIF5A-Related Neurodegenerative DisorderAutosomal dominant

    One of 372 genes linked to it

    Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).

    • ClinGen rates the link definitive
    • 4 GenCC submitters rate it definitive or strong

    ▶Actionability

    Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.

• Lysosomal Storage Disease

  • Lysosomal storage disease (other and unspecified types)

    One of 59 genes linked to it

    Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

    • ClinGen rates the link definitive
    • 4 GenCC submitters rate it definitive or strong

How CTSF is laid out

Exons make up 2 kb of the gene's 5.1 kb; 1,455 of those bases code for the protein.

Sequencing CTSF

ClinVar pathogenic variants (30)

The CTSF variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

• Pathogenic 11
• Pathogenic/likely pathogenic 1
• Likely pathogenic 18

See all 30 with every other CTSF variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

• CLCN6Cl-/H+ antiporter 6Shares 3 conditions
• CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninShares 3 conditions
• CLN5CLN5 lysosomal BMP synthaseShares 3 conditions
• CLN6CLN6 transmembrane ER proteinShares 3 conditions
• CLN8CLN8 transmembrane ER and ERGIC proteinShares 3 conditions
• CTSDcathepsin DShares 3 conditions
• DNAJC5DnaJ heat shock protein family (Hsp40) member C5Shares 3 conditions
• GRNgranulin precursorShares 3 conditions
• KCTD7potassium channel tetramerization domain containing 7Shares 3 conditions
• MFSD8major facilitator superfamily domain containing 8Shares 3 conditions
• PPT1palmitoyl-protein thioesterase 1Shares 3 conditions
• TPP1tripeptidyl peptidase 1Shares 3 conditions

Traits linked to CTSF

The Human Phenotype Ontology lists these as features of the rare conditions CTSF can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.18-8b139e39.

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