FIG4 wt Allele

Preferred Label : FIG4 wt Allele;

NCIt synonyms : BTOP; FIG4 Homolog, SAC Domain Containing Lipid Phosphatase Gene; CMT4J; FIG4, S. cerevisiae, Homolog of Gene; hSac3; FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. cerevisiae) Gene; YVS; KIAA0274; SAC3; FIG4 Phosphoinositide 5-Phosphatase wt Allele; dJ249I4.1; FIG4 Homolog (S. cerevisiae) Gene; FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing 3 Gene; FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase 3 Gene; ALS11;

NCIt definition : Human FIG4 wild-type allele is located in the vicinity of 6q21 and is approximately 134 kb in length. This allele, which encodes polyphosphoinositide phosphatase protein, is involved in polyphosphoinositide metabolism. Mutation of the gene is associated with amyotrophic lateral sclerosis 11, Yunis-Varon syndrome, Yunis-Varon syndrome, bilateral temporooccipital polymicrogyria, and Charcot-Marie-Tooth disease, type 4J.;

GenBank Accession Number : D87464;

Details

Origin ID

C124944;

UMLS CUI

C4084855;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 11 [OMIM Phenotype]
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-marie-tooth disease, type 4j [OMIM Phenotype]
- FIG4 phosphoinositide 5-phosphatase [ORDO Gene]
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
- Polymicrogyria, bilateral temporooccipital [OMIM Phenotype]
- Yunis-varon syndrome [OMIM Phenotype]
OMIM relation
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
See also inter- (CISMeF)
- amyotrophic lateral sclerosis type 11 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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