MARCHF6 membrane associated ring-CH-type finger 6
Gene ID: 10299, updated on 4-Jan-2025Gene type: protein coding
Also known as: TEB4; DOA10; FAME3; FCMTE3; MARCH6; RNF176; MARCH-VI
- See all available tests in GTR for this gene
- Go to complete Gene record for MARCHF6
- Go to Variation Viewer for MARCHF6 variants
Summary
This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies. GeneReviews: Not available | |
| Epilepsy, familial adult myoclonic, 3 | not available |
Genomic context
- Location:
- 5p15.2
- Sequence:
- Chromosome: 5; NC_000005.10 (10353695..10440388)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MARCHF6 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
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.