TMEM231 Antibody, Biotin conjugated

Code CSB-PA862028LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) TMEM231 Polyclonal antibody
Uniprot No.
Target Names
TMEM231
Alternative Names
TMEM231; UNQ870/PRO1886; Transmembrane protein 231
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Transmembrane protein 231 protein (161-261AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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Target Background

Function
Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.
Gene References into Functions
  1. Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome. PMID: 27449316
  2. Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS. PMID: 25869670
  3. TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. PMID: 23349226
  4. mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone. PMID: 23012439
Involvement in disease
Joubert syndrome 20 (JBTS20); Meckel syndrome 11 (MKS11)
Subcellular Location
Cell projection, cilium membrane; Multi-pass membrane protein.
Protein Families
TMEM231 family
Database Links

HGNC: 37234

OMIM: 614949

KEGG: hsa:79583

UniGene: Hs.156784

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7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
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