FOLH1B
Chr 11folate hydrolase 1B (pseudogene)
Also known as: FOLH2, FOLHP, PSM, PSMA-LIKE, PSMAL
The protein functions as a metallocarboxypeptidase with folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase activities, involved in C-terminal protein deglutamylation. FOLH1B mutations cause autosomal recessive spastic paraplegia, presenting as progressive lower limb spasticity and weakness affecting the motor system.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
29 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 16 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 8 |
Likely Benign | — | — | — | — | 4 |
Benign | — | — | — | — | 0 |
| Total | — | 29 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOLH1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools