MAD1L1 mitotic arrest deficient 1 like 1
Gene ID: 8379, updated on 5-Mar-2024Gene type: protein coding
Also known as: MAD1; MVA7; PIG9; TP53I9; TXBP181
- See all available tests in GTR for this gene
- Go to complete Gene record for MAD1L1
- Go to Variation Viewer for MAD1L1 variants
Summary
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available | |
| Malignant tumor of prostate | See labs |
| Meta-analysis identifies four new loci associated with testicular germ cell tumor. GeneReviews: Not available | |
| Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | not available |
| Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 7p22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (1815795..2232945, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAD1L1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MAD1L1 database
- 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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