| Type | Description |
|---|---|
| Definition | FIG4 phosphoinositide 5-phosphatase |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 10:07:00 | Severe Consequences SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. | 31313076 |
| 2020-03-14 11:37:00 | we identified four families with novel FIG4 genotypes and CNS white matter disease varying from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Impaired FIG4 function was revealed by the presence of large vacuoles in cultured patient fibroblasts | 30740813 |
| 2019-08-03 10:22:00 | These findings strongly indicate a critical dependence of FIG4 for the normal functions of peripheral nerve myelin. | 29518270 |
| 2019-03-16 10:51:00 | in the adult PNS Fig4 is required to protect myelinated axons from Wallerian degeneration. In the adult CNS, Fig4 is dispensable for fiber stability and nerve conduction, but is required for the timely repair of damaged white matter. The greater vulnerability of the PNS to Fig4 deficiency in the mouse is consistent with clinical observations in patients with Charcot-Marie-Tooth disease. | 29688489 |
| 2017-08-12 10:06:00 | A rare heterozygous FIG4 frameshift variant was identified in a German family. Sequence analysis of FIG4 in 200 ALS cases revealed five rare heterozygous FIG4 missense variants predicted to be deleterious. FIG4 is an ALS risk gene in a central European cohort. | 28051077 |
| Type | IDs |
|---|---|
| Synonymous | ALS11, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1 |
| Gene |
UniProtKB-ID:
FIG4_HUMAN
UniprotKB:
Q92562
UniParc:
UPI000000D9A3
EMBL:
D87464,
AL512303,
AK222732,
BC041338,
AL133472
Ensembl:
ENSG00000112367
KO:
hsa:9896
|
| Nucleutide sequences |
EMBL-CDS:
AAH41338.1,
BAD96452.1,
BAA13403.2
Ensembl_TRS:
ENST00000230124
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000230124
RefSeq:
XP_016867081.1,
XP_011534583.1,
XP_016867080.1,
XP_016867082.1,
NP_055660.1
|
| Others |
UniRef100:
UniRef100_Q92562
UniRef90:
UniRef90_Q92562
UniRef50:
UniRef50_Q92562
UniGene:
Hs.529959
CCDS:
CCDS5078.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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||||
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