HSPC117, also known as C22orf28, is a 505 amino acid protein that is encoded by a gene which maps to human chromosome 22. A highly homologous protein identified in rodents, FAAP (focal adhesion associated protein), encoded by murine D10Wsu52e gene, has been suggested to play a role in regulating cell adhesion dynamics. Chromosome 22 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.
Synonyms: FAAP, Ankyrin repeat domain 54, C22orf28, Chromosome 22 open reading frame 28, DJ149A16.6, HSPC117, Hypothetical protein LOC51493, Novel protein HSPC117, RP1-149A16.6, RTCB_HUMAN, tRNA-splicing ligase RtcB homolog.