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 Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Metabolism of proteins and Peptide hormone metabolism. 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.