MPPED1 is a 326 amino acid protein that is expressed predominately in adult brain and may be involved in the development and function of the central nervous system. The gene encoding MPPED1 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias.
Function:
May have metallophosphoesterase activity (in vitro).
Tissue Specificity:
Expressed predominantly in adult brain.
Similarity:
Belongs to the UPF0046 family.
SWISS:
O15442
Gene ID:
758
Database links:
Entrez Gene: 758 Human
Entrez Gene: 223726 Mouse
Entrez Gene: 362971 Rat
Omim: 602112 Human
SwissProt: O15442 Human
SwissProt: Q91ZG2 Mouse
Unigene: 159538 Human
Unigene: 36395 Mouse
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