NP_001135773.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated: 103kDa; 111kDa Observed: 115kDa
NCBI Official Full Name
meckelin isoform 2
NCBI Official Synonym Full Names
transmembrane protein 67
NCBI Official Synonym Symbols
MKS3; JBTS6; NPHP11; TNEM67; MECKELIN [Similar Products]
NCBI Protein Information
meckelin
UniProt Protein Name
Meckelin
UniProt Synonym Protein Names
Meckel syndrome type 3 protein; Transmembrane protein 67
UniProt Synonym Gene Names
NCBI Summary for TMEM67
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]
UniProt Comments for TMEM67
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
Research Articles on TMEM67
Precautions
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Disclaimer
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Products associated with anti-TMEM67 antibody
Pathways associated with anti-TMEM67 antibody
Diseases associated with anti-TMEM67 antibody
Organs/Tissues associated with anti-TMEM67 antibody
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