ASMT
Description
The ASMT (acetylserotonin O-methyltransferase) is a protein-coding gene located on chromosome X|Y.
N-Acetylserotonin O-methyltransferase (ASMT) is an enzyme responsible for the final step in melatonin biosynthesis, converting Normelatonin to melatonin. It's part of the tryptophan metabolism pathway and also catalyzes the conversion of 5-hydroxy-indoleacetate to 5-methoxy-indoleacetate, alongside another enzyme called n-acetylserotonin-o-methyltransferase-like-protein. The ASMT gene is located on the pseudoautosomal region of the X and Y chromosomes, with copies found on both. It's most abundant in the pineal gland and retina. Its structure has been determined through X-ray diffraction. ASMT belongs to the transferase, one-carbon group transferrers, and methyltransferases enzyme classes.
ASMT is also known as ASMTY, HIOMT, HIOMTY.
Associated Diseases
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- 46,XX testicular disorder of sex development
- familial male-limited precocious puberty
- testicular agenesis
- male infertility with teratozoospermia due to single gene mutation
- 46,XY complete gonadal dysgenesis
- spastic paraplegia-precocious puberty syndrome
- cancer
- retinoblastoma
