免 疫 原：recombinant human Alas1 C-terminal 200aa
SWISS：P13196
Gene ID ：211
Human Gene ID：211

5-aminolevulinate synthase 1 (ALAS-H) and 2 (ALAS-E) are two isoforms of ALAS, an enzyme catalyzing the first step of the heme biosynthetic pathway in mammals. The erythroid-specific isoenzyme, ALAS-E, regulates the first step of hematopoietic cell differentation and iron metabolism in the liver. ALAS-H is a housekeeping protein which mediates synthesis of early heme in the mitochondria of most cells. Succinyl CoA associates with ALAS-E in protein conformation change and translocation of ALAS-E into the mitochondria and does not interact with ALAS-H. The ALAS-E 5'-flanking region contains binding sites for nuclear activators such as GATA-1, NF-E2 and EKLF. Since the ALAS gene maps to the X chromosome, mutation of the gene leads to the pyridoxine-refractory X-linked sideroblastic anemia.
Subunit：Homodimer.
Subcellular Location：Mitochondrion matrix
Similarity：Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.