KIF21A kinesin family member 21A

Gene ID: 55605, updated on 28-Oct-2024
Gene type: protein coding
Also known as: FEOM1; CFEOM1; FEOM3A

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 MedGen: C1851102OMIM: 135700GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview	See labs

Genomic context

Location:: 12q12

Sequence:: Chromosome: 12; NC_000012.12 (39293228..39443120, complement)

Total number of exons:: 38

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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