NP_714915.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
meckelin isoform 1
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
UniProt Entry Name
MKS3_HUMAN
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
TMEM67: a protein localizes to the primary cilium and to the plasma membrane. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Defects in this protein are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. Interacts with DNAJB9, DNAJC10, MKS1 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: centrosome; endoplasmic reticulum membrane; cytoplasmic vesicle membrane; integral to membrane
Molecular Function: protein binding; unfolded protein binding; filamin binding
Biological Process: ER-associated protein catabolic process; organelle organization and biogenesis; cilium biogenesis
Disease: Coach Syndrome; Meckel Syndrome, Type 3; Nephronophthisis 11; Bardet-biedl Syndrome 1; Joubert Syndrome 6
Research Articles on TMEM67
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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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