EFL1 elongation factor like GTPase 1
Gene ID: 79631, updated on 5-May-2024Gene type: protein coding
Also known as: RIA1; SDS2; EFTUD1; FAM42A; HsT19294
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- Go to complete Gene record for EFL1
- Go to Variation Viewer for EFL1 variants
Summary
Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Shwachman-Diamond syndrome 2 | See labs |
Genomic context
- Location:
- 15q25.2
- Sequence:
- Chromosome: 15; NC_000015.10 (82130233..82262734, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFL1 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
- Variation ViewerRelated Variants
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