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.

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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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