ALAS1 Back

aminolevulinate, delta-, synthase 1

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NCBI Description of ALAS1

This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Community Annotation of ALAS1 Add / Edit ALAS1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ALAS1 is highly significantly mutated in
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ALAS1 is significantly mutated in
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ALAS1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for ALAS1