Receptor Expression-Enhancing Protein 1

Alternative Names

  • REEP1
  • Chromosome 2 Open Reading Frame 23
  • C2ORF23
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OMIM Number

609139

NCBI Gene ID

65055

Uniprot ID

Q9H902

Length

124,091 bases

No. of Exons

13

No. of isoforms

4

Protein Name

Receptor expression-enhancing protein 1

Molecular Mass

22255 Da

Amino Acid Count

201

Genomic Location

chr2:86,213,993-86,338,083

Gene Map Locus
2p11.2

Description

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001164730.2:c.324+1_324+7delinsACLebanonchr2:86254687-86254693Likely PathogenicLikely PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1NG_013037.1:g.88391_88397delinsAC; NM_001164730.2:c.324+1_324+7delinsAC869320621217864
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