QuickView for TNEM67 (gene)

Gene Symbol:

TMEM67 Homo sapiens

Full name:

transmembrane protein 67

Synonyms:

JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, meckelin, meckel syndrome type 3 protein

Genomic Location:

Chr 8: 94836321-94898323

Description:

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) a...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

YTATTTTNR_MEF2_02 ,  RFX1_02 ,  TAATTA_CHX10_01 ,  CTTTGT_LEF1_Q2

Cytogenetic Map:

8q22.1

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