Product Name
meckelin isoform 1 (TMEM67), Polyclonal Antibody
Full Product Name
meckelin isoform 1 antibody
Product Gene Name
anti-TMEM67 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Purity/Purification
Purified by antigen-affinity chromatography.
Form/Format
Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
Immunogen Type
Recombinant protein
Immunogen Description
Recombinant protein fragment contain a sequence corresponding to a region within amino acids 231 and 480 of Human TMEM67
Target Name
meckelin isoform 1
Preparation and Storage
Store at -20 degree C for long term preservation (recommended). Store at 4 degree C for short term use.
Other Notes
Small volumes of anti-TMEM67 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-TMEM67 antibody
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]
Product Categories/Family for anti-TMEM67 antibody
Total protein Ab
Applications Tested/Suitable for anti-TMEM67 antibody
Western Blot (WB)
Application Notes for anti-TMEM67 antibody
Western blotting: 1:500-1:3000
Testing Data of anti-TMEM67 antibody
Sample (30 ug of whole cell lysate) A: H1299 7.5% SDS PAGE Primary antibody diluted at 1: 1000
NCBI/Uniprot data below describe general gene information for TMEM67. It may not necessarily be applicable to this product.
NCBI Accession #
NP_714915
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NCBI GenBank Nucleotide #
NM_153704.5
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UniProt Secondary Accession #
Q3ZCX3; Q7Z5T8; Q8IZ06; B3KRU5; B3KT47; G5E9H2[Other Products]
UniProt Related Accession #
Q5HYA8[Other Products]
Molecular Weight
103,590 Da[Similar Products]
NCBI Official Full Name
meckelin isoform 1
NCBI Official Synonym Full Names
transmembrane protein 67
NCBI Official Symbol
TMEM67??[Similar Products]
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 Gene Name
TMEM67??[Similar Products]
UniProt Synonym Gene Names
MKS3??[Similar Products]
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, integral; Membrane protein, multi-pass
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
1. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Precautions
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Disclaimer
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