TMEM67 transmembrane protein 67

Gene ID: 91147, updated on 10-Oct-2024
Gene type: protein coding
Also known as: MKS3; JBTS6; NPHP11; TNEM67; MECKELIN

Summary

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Bardet-Biedl syndrome 14 MedGen: C2673874OMIM: 615991GeneReviews: Bardet-Biedl Syndrome Overview	See labs
COACH syndrome 1 MedGen: C5435651OMIM: 216360GeneReviews: Not available	See labs
Joubert syndrome 6 MedGen: C1853153OMIM: 610688GeneReviews: Joubert Syndrome	See labs
Meckel syndrome, type 3 MedGen: C1846357OMIM: 607361GeneReviews: Not available	See labs
Nephronophthisis 11 MedGen: C3150796OMIM: 613550GeneReviews: Nephronophthisis-Related Ciliopathies	See labs
RHYNS syndrome MedGen: C1865794OMIM: 602152GeneReviews: Not available	See labs

Genomic context

Location:: 8q22.1

Sequence:: Chromosome: 8; NC_000008.11 (93754844..93832653)

Total number of exons:: 35

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 TMEM67 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
TMEM67 @ LOVD
Variation Viewer
Related Variants

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