KIF21A kinesin family member 21A
Gene ID: 55605, updated on 28-Oct-2024Gene type: protein coding
Also known as: FEOM1; CFEOM1; FEOM3A
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- Go to complete Gene record for KIF21A
- Go to Variation Viewer for KIF21A variants
Summary
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Congenital fibrosis of extraocular muscles type 1 | See labs |
Genomic context
- Location:
- 12q12
- Sequence:
- Chromosome: 12; NC_000012.12 (39293228..39443120, complement)
- Total number of exons:
- 38
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for KIF21A 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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