REEP1 receptor accessory protein 1

Gene ID: 65055, updated on 4-Jan-2025
Gene type: protein coding
Also known as: DSMA6; HMN5B; HMNR6; SPG31; Yip2a; HMND12; C2orf23

Summary

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. [provided by RefSeq, Sep 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hereditary spastic paraplegia 31 MedGen: C1853247OMIM: 610250GeneReviews: Not available	See labs
Neuronopathy, distal hereditary motor, type 5B MedGen: C3553656OMIM: 614751GeneReviews: Not available	See labs
Spinal muscular atrophy, distal, autosomal recessive, 6 MedGen: C5774201OMIM: 620011GeneReviews: Not available	See labs

Genomic context

Location:: 2p11.2

Sequence:: Chromosome: 2; NC_000002.12 (86213993..86338083, complement)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for REEP1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
REEP1 database
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.