REEP1
Identifiers
AliasesREEP1, C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1
External IDsOMIM: 609139 MGI: 1098827 HomoloGene: 41504 GeneCards: REEP1
Orthologs
SpeciesHumanMouse
Entrez

65055

52250

Ensembl

ENSG00000068615

ENSMUSG00000052852

UniProt

Q9H902

Q8BGH4

RefSeq (mRNA)

NM_178608

RefSeq (protein)

NP_848723

Location (UCSC)Chr 2: 86.21 – 86.34 MbChr 6: 71.68 – 71.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.[5][6][7]

Clinical significance

Mutations in REEP1 are known to cause the following conditions:[8]

  • Spastic paraplegia 31, autosomal dominant (SPG31);
  • Neuronopathy, distal hereditary motor, 5B (HMN5B);
  • Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000068615 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052852 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Clark AJ, Metherell LA, Cheetham ME, Huebner A (Nov 2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends Endocrinol Metab. 16 (10): 451–7. doi:10.1016/j.tem.2005.10.006. PMID 16271481. S2CID 27450434.
  6. Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H (Nov 2004). "RTP family members induce functional expression of mammalian odorant receptors". Cell. 119 (5): 679–91. doi:10.1016/j.cell.2004.11.021. PMID 15550249. S2CID 13555927.
  7. "Entrez Gene: REEP1 receptor accessory protein 1".
  8. "UniProt". www.uniprot.org. Retrieved 2023-07-08.

Further reading


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