FERRY3 FERRY endosomal RAB5 effector complex subunit 3
Gene ID: 57102, updated on 5-Mar-2024Gene type: protein coding
Also known as: Fy-3; MRT66; C12orf4
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- Go to complete Gene record for FERRY3
- Go to Variation Viewer for FERRY3 variants
Summary
This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variants associate with serum phosphorus concentration. GeneReviews: Not available | |
| Intellectual disability, autosomal recessive 66 | See labs |
Genomic context
- Location:
- 12p13.32
- Sequence:
- Chromosome: 12; NC_000012.12 (4487735..4538469, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FERRY3 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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