GTR Home > Genes

ALAS2 5'-aminolevulinate synthase 2

Also known as: ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1

Summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Genomic context

Location:
Xp11.21
Sequence:
Chromosome: X; NC_000023.11 (55009055..55031064, complement)
Total number of exons:
13

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.