Search for a gene
FIG4 - FIG4 phosphoinositide 5-phosphatase
- Synonym(s) : ALS11, CMT4J, dJ249I4.1, hSac3, SAC3
- Previous symbols and names : FIG4 homolog (S. cerevisiae), FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae), KIAA0274
- Type : gene with protein product
- Chromosomal location : 6q21
- OMIM: 609390
- HGNC: 16873
- UniProtKB: Q92562
- Genatlas: FIG4
- Ensembl: ENSG00000112367
- IUPHAR-DB: -
- Reactome: Q92562
- LOVD: FIG4
Diseases list
- Disease-causing germline mutation(s) in Amyotrophic lateral sclerosis
ORPHA:803 
- Disease-causing germline mutation(s) in Charcot-Marie-Tooth disease type 4J
ORPHA:139515 - Disease-causing germline mutation(s) (loss of function) in Bilateral parasagittal parieto-occipital polymicrogyria
ORPHA:208441 - Disease-causing germline mutation(s) (loss of function) in Yunis-Varon syndrome
ORPHA:3472
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.