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PLEKHG5 - pleckstrin homology and RhoGEF domain containing G5
- Synonym(s) : GEF720, KIAA0720, synectin-binding guanine exchange factor, Syx, Tech
- Previous symbols and names : pleckstrin homology domain containing, family G (with RhoGef domain) member 5
- Type : gene with protein product
- Chromosomal location : 1p36.31
- OMIM: 611101
- HGNC: 29105
- UniProtKB: O94827
- Genatlas: PLEKHG5
- GenCC: PLEKHG5
- Ensembl: ENSG00000171680
- IUPHAR-DB: -
- Reactome: O94827
- LOVD: PLEKHG5
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
ORPHA:369867 
- Disease-causing germline mutation(s) in Autosomal recessive lower motor neuron disease with childhood onset
ORPHA:206580
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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