Preferred Label : REEP1 wt Allele;
NCIt synonyms : HMNR6; Chromosome 2 Open Reading Frame 23 Gene; Yip2a; DSMA6; C2orf23; HMN5B; Receptor Expression Enhancing Protein 1 Gene; HMND12; Receptor Accessory Protein 1 wt Allele; SPG31; FLJ13110;
NCIt definition : Human REEP1 wild-type allele is located in the vicinity of 2p11.2 and is approximately
124 kb in length. This allele, which encodes receptor expression-enhancing protein
1, plays a role in endoplasmic reticulum formation and remodeling, and in the cell
surface localization of odorant receptors. Mutations in the gene are associated with
autosomal dominant spastic paraplegia 31, autosomal dominant distal hereditary motor
neuronopathy 12 and autosomal recessive distal hereditary motor neuronopathy 6.;
NCI Metathesaurus CUI : CL1927388;
GenBank Accession Number : AK023172;
Origin ID : C204948;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
