TMEM67, Polyclonal Antibody

Meckelin; Meckel syndrome type 3 protein; Transmembrane protein 67; TMEM67; MKS3

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

>95%,Protein G purified

Liquid

Shipped at 4 degree C. Upon delivery, aliquot and store at -20 degree C or -80 degree C.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

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.

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).

ELISA (EIA)

103,590 Da

transmembrane protein 67

meckelin

Meckelin

MKS3  [Similar Products]

MKS3_HUMAN

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]

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; cytoplasmic vesicle membrane; endoplasmic reticulum membrane; integral to membrane

Molecular Function: filamin binding; protein binding; unfolded protein binding

Biological Process: cilium biogenesis; determination of left/right symmetry; ER-associated protein catabolic process; heart development; organelle organization and biogenesis

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 14; Coach Syndrome; Joubert Syndrome 6; Meckel Syndrome, Type 3; Nephronophthisis 11

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