DNAAF4 dynein axonemal assembly factor 4

Gene ID: 161582, updated on 22-Apr-2024
Gene type: protein coding
Also known as: RD; DYX1; EKN1; pf23; DYXC1; CILD25; DYX1C1

Summary

This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Dyslexia, susceptibility to, 1 MedGen: C1851967OMIM: 127700GeneReviews: Not available	See labs
Primary ciliary dyskinesia 25 MedGen: C3809641OMIM: 615482GeneReviews: Primary Ciliary Dyskinesia	See labs

Genomic context

Location:: 15q21.3

Sequence:: Chromosome: 15; NC_000015.10 (55417755..55508234, complement)

Total number of exons:: 11

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 DNAAF4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
DYX1C1 database
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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