anti-Chromosome 5 Open Reading Frame 42 (C5ORF42) Antibodies

The protein encoded by C5ORF42 has putative coiled-coil domains and may be a transmembrane protein.

list all antibodies Gene Name GeneID UniProt
C5ORF42 65250 Q9H799
C5ORF42    
C5ORF42    
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Top anti-C5ORF42 Antibodies at antibodies-online.com

Showing 10 out of 16 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Delivery Price Details
Human Rabbit Alexa Fluor 594 IF (p)   100 μL 14 to 21 Days
$416.90
Details
Human Rabbit Alexa Fluor 350 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Alexa Fluor 488 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Alexa Fluor 555 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Alexa Fluor 647 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Cy3 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Cy5 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Cy5.5 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit Cy7 IF (p)   100 μL 3 to 7 Days
$416.90
Details
Human Rabbit FITC IF (p)   100 μL 3 to 7 Days
$416.90
Details

Top referenced anti-C5ORF42 Antibodies

  1. Human Polyclonal C5ORF42 Primary Antibody for ICC, IF - ABIN4286500 : Hong, Joo, Park, Seo, Kim, Shin, Cheong, Lee, Kim: Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. in Annals of neurology 2019 (PubMed)

More Antibodies against C5ORF42 Interaction Partners

Human Chromosome 5 Open Reading Frame 42 (C5ORF42) interaction partners

  1. Seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, were identified in OFD6 patients.

  2. In C5orf42-mutant Joubert syndrome patients, the infratentorial magnetic resonance images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles, normal or minimally deepened interpeduncular fossa, and mild vermian hypoplasia.

  3. C5orf42 is one of the causative genes for OFDVI.

  4. C5orf42 mutation is associated with Oral-facial-digital syndrome type VI.

  5. We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features.

  6. Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis

  7. C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy.

  8. The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome.

C5ORF42 Antigen Profile

Protein Summary

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS).

Gene names and symbols associated with C5ORF42

  • chromosome 5 open reading frame 42 (C5orf42) antibody
  • JBTS17 antibody

Protein level used designations for C5ORF42

Transmembrane protein ENSP00000382582 , uncharacterized protein C5orf42

GENE ID SPECIES
65250 Homo sapiens
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