PSAP

Curated reports relevant to this gene

• Metachromatic Leukodystrophy

  • Metachromatic leukodystrophy (ARSA and saposin B deficiency)Autosomal recessive

    Loss of arylsulfatase A activity, or of its activator saposin B, causes progressive loss of motor and cognitive skills, with late infantile, juvenile and adult onset forms.

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

    What knowing changes

    Gene therapy (atidarsagene autotemcel) or stem cell transplantation can help when given before or very early in the course of the disease, so early diagnosis matters.

Broader groupings

• Other Inherited Leukodystrophies

  • Leukodystrophy (other and unspecified types)

    One of 80 genes linked to it

    Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

    What knowing changes

    Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

• 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
    • 6 GenCC submitters rate it definitive or strong

How PSAP is laid out

Exons make up 2.7 kb of the gene's 35 kb; 1,575 of those bases code for the protein.

How a genome test reads PSAP

Genes linked to the same conditions

• ARSAarylsulfatase AShares 3 conditions
• CYP27A1cytochrome P450 family 27 subfamily A member 1Shares 2 conditions
• GALCgalactosylceramidaseShares 2 conditions
• AARS1alanyl-tRNA synthetase 1Shares 1 condition
• AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
• ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
• ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseShares 1 condition
• ACER3alkaline ceramidase 3Shares 1 condition
• ADARadenosine deaminase RNA specificShares 1 condition
• AGAaspartylglucosaminidaseShares 1 condition
• AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1Shares 1 condition
• AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Shares 1 condition

Traits linked to PSAP

The Human Phenotype Ontology lists these as features of the rare conditions PSAP 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 2026-10-16: 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 2026.10.16-c6eea6bf.

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