FIG4 FIG4 phosphoinositide 5-phosphatase
Gene ID: 9896, updated on 7-Apr-2024Gene type: protein coding
Also known as: BOP; YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1
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Summary
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
Associated conditions
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| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Amyotrophic lateral sclerosis type 11 | See labs |
| Bilateral parasagittal parieto-occipital polymicrogyria | See labs |
| Charcot-Marie-Tooth disease type 4J | See labs |
| Yunis-Varon syndrome | See labs |
Genomic context
- Location:
- 6q21
- Sequence:
- Chromosome: 6; NC_000006.12 (109691296..109825426)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FIG4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/FIG4 genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FIG4 homepage - Leiden Muscular Dystrophy pages
- IPN Mutations, FIG4
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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