anti-Human, Mouse Meckelin Polyclonal Antibody | anti-TMEM67 antibody

Meckelin Antibody

Cat. Num. AAA857207

• Gene Names: TMEM67; MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
• Reactivity: Human, Mouse
• Applications: Western Blot
• Purity: Affinity purified
• Synonyms: Meckelin; Polyclonal Antibody; Meckelin Antibody; anti-TMEM67 antibody

• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: This antibody is produced by immunizing rabbits with a synthetic peptide (KLH-coupled) corresponding to the residues of Meckelin.
• Purity/Purification: Affinity purified
• Form/Format: 1*TBS (pH7.4), 0.5%BSA, 25% Glycerol.
• Sequence Length: 914

• Applicable Applications for anti-TMEM67 antibody: Western Blot (WB)
• Application Notes: WB: 1:500
• Preservative: 0.05% Sodium Azide.
• Cellular Localization: Cell Membrane
• Positive Control: Mouse Spinal Cord
• Preparation and Storage: Store at +4 degree C after thawing. Aliquot store at-20 degree C or-80 degree C. Avoid repeated freeze/thaw cycles.

Western Blot

(Western blot analysis on mouse spinal cord.)

Related Product Information for anti-TMEM67 antibody

Meckelin, also known as Transmembrane protein 67(TMEM67), is a 995 amino acid multi-pass membrane protein. It is widely expressed in adult and fetal tissues, expressed at higher level in spinal cord. Defects in TMEM67 are the cause of Meckel syndrome type 3 (MKS3). MKS3 is an autosomal recessive disorder characterized by a combination of renal cysts. Defects in TMEM67 are also the cause of Joubert syndrome type 6 (JBTS6). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.

References

1. "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat."Smith U.M., Consugar M., Tee L.J., McKee B.M., Maina E.N., Whelan S., Morgan N.V., Goranson E., Gissen P., Lilliquist S., Aligianis I.A., Ward C.J., Pasha S., Punyashthiti R., Malik Sharif S., Batman P.A., Bennett C.P., Woods C.G., McKeown C., Bucourt M., Miller C.A., Cox P., Algazali L., Trembath R.C., Torres V.E., Attie-Bitach T., Kelly D.A., Maher E.R., Gattone V.H., Harris P.C., Johnson C.A.Nat. Genet. 38:191-196(2006). 2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."The MGC Project TeamGenome Res. 14:2121-2127(2004).

NCBI and Uniprot Product Information

• NCBI GI #: 214830753
• NCBI GeneID: 91147
• NCBI Accession #: NP_001135773.1
• NCBI GenBank Nucleotide #: NM_001142301.1
• UniProt Accession #: Q5HYA8; Q3ZCX3; Q7Z5T8; Q8IZ06; B3KRU5; B3KT47; G5E9H2
• Molecular Weight: 112kDa
• NCBI Official Full Name: meckelin isoform 2
• NCBI Official Synonym Full Names: transmembrane protein 67
• NCBI Official Symbol: TMEM67
• NCBI Official Synonym Symbols: MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
• NCBI Protein Information: meckelin
• UniProt Protein Name: Meckelin
• Protein Family: Meckelin
• UniProt Gene Name: TMEM67
• UniProt Synonym Gene Names: MKS3

NCBI 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) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

Uniprot Description

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).