SLC25A46 solute carrier family 25 member 46
Gene ID: 91137, updated on 19-Sep-2024Gene type: protein coding
Also known as: PCH1E; HMSN6B
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A46
- Go to Variation Viewer for SLC25A46 variants
Summary
This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available | |
| Neuropathy, hereditary motor and sensory, type 6B | See labs |
| Pontocerebellar hypoplasia, type 1E | See labs |
Genomic context
- Location:
- 5q22.1
- Sequence:
- Chromosome: 5; NC_000005.10 (110738145..110765157)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A46 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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