VPS37A VPS37A subunit of ESCRT-I
Gene ID: 137492, updated on 28-Oct-2024Gene type: protein coding
Also known as: HCRP1; PQBP2; SPG53
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- Go to complete Gene record for VPS37A
- Go to Variation Viewer for VPS37A variants
Summary
This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. GeneReviews: Not available | |
| Hereditary spastic paraplegia 53 | See labs |
Genomic context
- Location:
- 8p22
- Sequence:
- Chromosome: 8; NC_000008.11 (17246958..17333455)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VPS37A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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