Gene: HMBS
Official Full Name: hydroxymethylbilane synthaseprovided by HGNC
Gene Summary: This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO37334 | HMBS Knockout cell line (HeLa) | Human | HMBS | 1:3~1:6 | Negative | Online Inquiry |
KO37335 | HMBS Knockout cell line (HCT 116) | Human | HMBS | 1:2~1:4 | Negative | Online Inquiry |
KO37336 | HMBS Knockout cell line (HEK293) | Human | HMBS | 1:3~1:6 | Negative | Online Inquiry |
KO37337 | HMBS Knockout cell line (A549) | Human | HMBS | 1:3~1:4 | Negative | Online Inquiry |
HMBS Gene Knockout Cell Lines are precisely engineered cellular models that have undergone targeted gene disruption of the Hydroxymethylbilane Synthase (HMBS) gene. This innovative genetic modification results in the absence of functional HMBS protein, an enzyme critical in the heme biosynthesis pathway. By utilizing techniques such as CRISPR-Cas9 gene editing, these cell lines provide unparalleled insight into the biological role of HMBS and its implications in metabolic disorders, such as acute intermittent porphyria (AIP).
The primary function of HMBS Gene Knockout Cell Lines is to serve as a robust platform for studying the consequences of HMBS deficiency on cellular metabolism, gene expression, and the overall pathophysiology of porphyrias. They enable researchers to elucidate the underlying mechanisms of disease progression and explore potential therapeutic targets. These models are also indispensable for testing drug efficacy and conducting biochemical assays that were previously limited by the availability of appropriate in vivo or standard cell line models.
From a scientific perspective, these knockout cell lines are invaluable in translational research and clinical settings. They facilitate a deeper understanding of HMBS-related metabolic dysregulation, providing critical insights for developing new treatment strategies for AIP and related disorders. Their high specificity and reproducibility position them as superior tools compared to traditional models, such as wild-type cell lines or primary cells, which may not accurately mimic the disease state.
One of the significant advantages of HMBS Gene Knockout Cell Lines over existing alternatives is their tailored genetic modification, which eliminates confounding variables often present in non-targeted models. This specificity enhances the reliability of experimental results and accelerates the path from bench to bedside. Additionally, these cell lines can be maintained under standard culture conditions, allowing for seamless integration into existing workflows.
For researchers and clinicians aiming to unlock the complexities of porphyric diseases or enhance the understanding of heme synthesis, HMBS Gene Knockout Cell Lines represent a critical resource. Their unique ability to mimic the absence of functional HMBS allows for innovative experimental designs and more targeted therapeutic strategies.
Our company is committed to advancing biological research through the provision of cutting-edge cellular models. With a focus on quality and scientific integrity, we ensure that our products, including HMBS Gene Knockout Cell Lines, enable researchers to drive breakthrough discoveries and improve patient outcomes.
Please note that all services are for research use only. Not intended for any clinical use.
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