ALAS1 Back

aminolevulinate, delta-, synthase 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

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

No community annotations yet for ALAS1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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
(none)
ALAS1 is significantly mutated in
(none)
ALAS1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ALAS1