SPTA1 spectrin alpha, erythrocytic 1
Gene ID: 6708, updated on 5-Mar-2024Gene type: protein coding
Also known as: EL2; HPP; HS3; SPH3; SPTA
- See all available tests in GTR for this gene
- Go to complete Gene record for SPTA1
- Go to Variation Viewer for SPTA1 variants
Summary
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. GeneReviews: Not available | |
Elliptocytosis 2 | See labs |
Hereditary spherocytosis type 3 | See labs |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
Pyropoikilocytosis, hereditary | See labs |
Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available |
Genomic context
- Location:
- 1q23.1
- Sequence:
- Chromosome: 1; NC_000001.11 (158610704..158686715, complement)
- Total number of exons:
- 52
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SPTA1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
- SPTA1 database
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.