IFT81 intraflagellar transport 81

Gene ID: 28981, updated on 27-Nov-2024
Gene type: protein coding
Also known as: DV1; CDV1; CDV-1; CDV1R; CDV-1R; SRTD19

Summary

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Short-rib thoracic dysplasia 19 with or without polydactyly MedGen: C4693524OMIM: 617895GeneReviews: Not available	See labs

Genomic context

Location:: 12q24.11

Sequence:: Chromosome: 12; NC_000012.12 (110124357..110218793)

Total number of exons:: 21

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 IFT81 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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