Previous symbols: GSAS, PYCS, SPG9. Aliases: P5CS.
ai-gene-review has this gene at status DRAFT; 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 |
|---|---|---|
| ALDH18A1-Related Autosomal Dominant Cutis Laxa Type 3 |
untyped
Causative
|
mechanism: p.Arg138Trp-supported P5CS dominant-negative complex disruption
|
| ALDH18A1-Related Spastic Paraplegia and Neurocutaneous Spectrum |
untyped
Causative
|
mechanism: Biallelic ALDH18A1 P5CS dysfunction; Dominant SPG9A P5CS dysfunction; p.Arg749Gln/p.Arg765Gln stability and lipid-droplet phenotype; p.Arg84Gln-associated metabolic branch; p.Thr331Pro fibroblast metabolic and transcript changes
|
| Complex Hereditary Spastic Paraplegia | untyped |
mechanism: Pyrroline-5-Carboxylate Synthase Dysfunction
subtype: AD Complex HSP
scoped to subtype: AD Complex HSP
|
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 |
|---|---|---|---|
| P5CS deficiency MONDO:0100126 | SD | Definitive 2021-05-18 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.