SPTAN1 spectrin alpha, non-erythrocytic 1
Gene ID: 6709, updated on 7-Jul-2024Gene type: protein coding
Also known as: DEE5; NEAS; DEVEP; EIEE5; HMN11; SPG91; SPTA2; HMND11
- See all available tests in GTR for this gene
- Go to complete Gene record for SPTAN1
- Go to Variation Viewer for SPTAN1 variants
Summary
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 5 | See labs |
| Developmental delay with or without epilepsy | See labs |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | not available |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | not available |
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (128552587..128633662)
- Total number of exons:
- 60
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPTAN1 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
- SPTAN1 database
- Variation ViewerRelated Variants
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