SBF1 wt Allele

Preferred Label : SBF1 wt Allele;

NCIt synonyms : DENND7A; DENN/MADD Domain Containing 7A Gene; SET Binding Factor 1 wt Allele; CMT4B3; MTMR5; Myotubularin Related 5 Gene;

NCIt definition : Human SBF1 wild-type allele is located in the vicinity of 22q13.33 and is approximately 41 kb in length. This allele, which encodes myotubularin-related protein 5, plays a role in guanine nucleotide exchange and the regulation of phosphoinositol phosphatase activity. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 4B3.;

NCI Metathesaurus CUI : CL1927414;

GenBank Accession Number : U93181;

Details

Origin ID

C204990;

OMIM relation
- Set-binding factor 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q13.33 [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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