Recombinant Human 5-aminolevulinate synthase, nonspecific, mitochondrial (ALAS1)

Uniprot Id

P13196

Target Species

Human

Target Name

ALAS1

Target Full Name

5-aminolevulinate synthase, non-specific, mitochondrial

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Class-II pyridoxal-phosphate-dependent aminotransferase family

Target Synonyms

5 aminolevulinate synthase ; 5 aminolevulinate synthase nonspecific mitochondrial; 5 aminolevulinic acid synthase; 5-aminolevulinate synthase; 5-aminolevulinic acid synthase 1; Alas 1; ALAS 3; ALAS; ALAS H; ALAS HOUSEKEEPING TYPE; ALAS N; ALAS-H; alaS1; ALAS3; ALASH; Aminolevulinate delta synthase 1; Aminolevulinic acid synthase 1 ; Delta ALA synthetase; Delta aminolevulinate synthase; Delta-ALA synthase 1; Delta-aminolevulinate synthase 1; HEM1_HUMAN; MIG 4; MIG4; Migration inducing protein 4; mitochondrial; nonspecific

Target Background

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.