MAP1B microtubule associated protein 1B
Gene ID: 4131, updated on 4-Aug-2024Gene type: protein coding
Also known as: MAP5; PVNH9; DFNA83; FUTSCH; PPP1R102
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- Go to complete Gene record for MAP1B
- Go to Variation Viewer for MAP1B variants
Summary
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, autosomal dominant 83 | not available |
| Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. GeneReviews: Not available | |
| Periventricular nodular heterotopia 9 | See labs |
Genomic context
- Location:
- 5q13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (72107475..72209565)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAP1B 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
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