AMME Chromosomal Region Gene 1 (AMMECR1)

Alport Syndrome,Mental Retardation,Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1

AMME Chromosomal Region Gene 1 (AMMECR1)
The deduced 333-amino acid protein has a molcular mass of 35.5 kD. Northern blot analysis detected a 6.5-kb transcript. Sequence analysis showed that the gene is conserved in several species ranging from Caenorhabditis elegans and yeast to microorganisms.
Exon 2 of AMMECR1 encodes a domain consisting of 6 amino acids identically conserved throughout the course of evolution. The putative nuclear localization, the presence of a glycine-rich N terminus, and the high degree of instability of the protein raised the possibility that AMMECR1 may play a role in regulation. Furthermore, the identification of several potential phosphorylation sites suggested that the AMMECR1 protein itself is subject to strict regulation.

Organism species: Homo sapiens (Human)

Organism species: Mus musculus (Mouse)