ALAS1 Summary

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

ALAS1 Details

Gene Symbol : ALAS1

Gene Name : 5'-aminolevulinate synthase 1

Chromosome : CHR 3: 521,980,82-522,143,26

Locus : 3p21.2

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PARP3 Summary

The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

PARP3 Details

Gene Symbol : PARP3

Gene Name : Poly(ADP-ribose) polymerase family member 3

Chromosome : CHR 3: 519,422,81-519,488,66

Locus : 3p21.2

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