Aliases for DEFA1 Gene
External Ids for DEFA1 Gene
Previous HGNC Symbols for DEFA1 Gene
Previous GeneCards Identifiers for DEFA1 Gene
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]
GeneCards Summary for DEFA1 Gene
DEFA1 (Defensin Alpha 1) is a Protein Coding gene. Diseases associated with DEFA1 include Oral Candidiasis and Bell's Palsy. Among its related pathways are Transcriptional misregulation in cancer and Cellular roles of Anthrax toxin. An important paralog of this gene is DEFA1B.
UniProtKB/Swiss-Prot Summary for DEFA1 Gene
Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.