Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 8 bp deletion in exon 1
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-FAM136A, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The fam136a gene encodes a protein known as Family with Sequence Similarity 136 Member A. It is a relatively small protein with a molecular mass of approximately 26 kDa. This protein is primarily expressed in the inner ear structures where it plays a significant role in maintaining normal auditory functions. Besides Fam136a shows expression in various other tissues indicating a broader biological significance. Despite being less studied its conservation across species suggests an essential functional role in cellular processes.
Biological function summary
Fam136a contributes significantly to maintaining cell structure integrity and signaling pathways. It may participate in protein complexes that modulate cytoskeletal interactions vital for cellular stability. Integration into specific protein complexes allows Fam136a to influence processes such as cellular adhesion and migration. These roles make it a potential regulator in the development and maintenance of cellular framework across different tissues particularly those requiring precise structural organization.
Pathways
The fam136a protein functions within critical signaling assemblies. It plays a part in the Hedgehog signaling pathway which is important for cell differentiation and growth. Additionally Fam136a has a potential link to the Wnt signaling pathway which regulates cell fate determination. Both of these pathways are essential in developmental biology and any dysfunction in these systems can result in significant developmental anomalies. This functional placement highlights how Fam136a interacts with other pathway proteins maintaining pathway integrity and efficiency.
Research indicates a potential link between Fam136a and auditory disorders such as hereditary deafness. Mutations in this protein can disrupt cellular processes in the inner ear leading to hearing impairment. Another association exists with familial migraine disorder where alterations in Fam136a may interfere with normal signaling processes. This has implications in how it may interact with other proteins implicated in these conditions such as CACNA1A in migraines highlighting its importance in disease pathways. Understanding these connections provides insight into targeted therapeutic strategies that could mitigate such disorders.
