Aliases for C9orf3 Gene
External Ids for C9orf3 Gene
Previous GeneCards Identifiers for C9orf3 Gene
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
GeneCards Summary for C9orf3 Gene
C9orf3 (Chromosome 9 Open Reading Frame 3) is a Protein Coding gene. Diseases associated with C9orf3 include Fanconi Anemia, Complementation Group C and Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Peptide hormone metabolism and Hepatitis C and Hepatocellular Carcinoma. Gene Ontology (GO) annotations related to this gene include binding and aminopeptidase activity. An important paralog of this gene is RNPEP.
UniProtKB/Swiss-Prot for C9orf3 Gene
Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.