ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1
Gene ID: 23204, updated on 11-Apr-2024Gene type: protein coding
Also known as: AIP1; ARMER; SPG61; ARL6IP
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- Go to complete Gene record for ARL6IP1
- Go to Variation Viewer for ARL6IP1 variants
Summary
This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hereditary spastic paraplegia 61 | See labs |
Genomic context
- Location:
- 16p12.3
- Sequence:
- Chromosome: 16; NC_000016.10 (18791667..18801549, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARL6IP1 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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