Previous symbols: SAP1, GLBA, SAP2.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Combined Saposin Deficiency | causative germline |
mechanism: Prosaposin Deficiency and Loss of All Saposins
|
| Gaucher Disease Due To Saposin C Deficiency | causative germline |
mechanism: Saposin C Deficiency from PSAP Variants
animal model: Saposin C C384S knock-in mouse (Sap-C-/-)
|
| Krabbe Disease Due To Saposin A Deficiency | causative germline |
mechanism: Saposin A Deficiency from PSAP Variants
|
| Metachromatic Leukodystrophy | causative germline |
mechanism: Saposin B Deficiency
subtype: Saposin B-Deficient MLD
scoped to subtype: Saposin B-Deficient MLD
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| metachromatic leukodystrophy due to saposin B deficiency MONDO:0009590 | AR | Definitive 2023-07-20 |
Metachromatic Leukodystrophy
causative
|
| Gaucher disease due to saposin C deficiency MONDO:0012517 | AR | Definitive 2023-06-26 |
|
| combined PSAP deficiency MONDO:0012719 | AR | Definitive 2023-07-20 |
Combined Saposin Deficiency
causative
|
| Krabbe disease due to saposin A deficiency MONDO:0012720 | AR | Moderate 2025-09-12 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.