EPB41 erythrocyte membrane protein band 4.1
Gene ID: 2035, updated on 17-Jun-2024Gene type: protein coding
Also known as: HE; EL1; 4.1R
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- Go to complete Gene record for EPB41
- Go to Variation Viewer for EPB41 variants
Summary
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Elliptocytosis 1 | See labs |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available |
Genomic context
- Location:
- 1p35.3
- Sequence:
- Chromosome: 1; NC_000001.11 (28887100..29120041)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EPB41 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EPB41 database
- 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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