MARCHF6 membrane associated ring-CH-type finger 6
Gene ID: 10299, updated on 2-Nov-2024Gene type: protein coding
Also known as: TEB4; DOA10; FAME3; FCMTE3; MARCH6; RNF176; MARCH-VI
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
| 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 |
|---|---|
| SNP | Variation Viewer for MARCHF6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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