MFHAS1 multifunctional ROCO family signaling regulator 1
Gene ID: 9258, updated on 14-Nov-2024Gene type: protein coding
Also known as: MASL1; ROCO4; LRRC65
- See all available tests in GTR for this gene
- Go to complete Gene record for MFHAS1
- Go to Variation Viewer for MFHAS1 variants
Summary
Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. GeneReviews: Not available | |
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-02-08) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-02-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8p23.1
- Sequence:
- Chromosome: 8; NC_000008.11 (8783354..8893630, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MFHAS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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