INTU inturned planar cell polarity protein

Gene ID: 27152, updated on 2-Nov-2024
Gene type: protein coding
Also known as: INT; OFD17; PDZD6; PDZK6; SRTD20; CPLANE4

Summary

Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Nov 2024]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Orofaciodigital syndrome 17 MedGen: C4693640OMIM: 617926GeneReviews: Not available	See labs
Short-rib thoracic dysplasia 20 with polydactyly MedGen: C4693616OMIM: 617925GeneReviews: Not available	See labs

Genomic context

Location:: 4q28.1

Sequence:: Chromosome: 4; NC_000004.12 (127632957..127726737)

Total number of exons:: 16

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 INTU 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
Variation Viewer
Related Variants

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