DEFA1
LOCUS ID1667
GENE_SYMBOLDEFA1
GENE NAMEdefensin, alpha 1
SYNONYMNSHP1, MRS, DEF1, HP-1, DEFA2, HNP-1
CHROMOSOME8
HOMOLOGENE ID128756
microRNAsNANA
GENE SUMMARY
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 vagi. 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The highest concentrations of alpha-defensin were found in diabetic patients with nephropathy (49.4+- 4.8 ng/mL),neuropathy (38.7 ? 4.8 ng/mL) or cardiovascular complications (45.6 ? 1.45 ng/L)25083086
Tuberculosis1. DEFA1 gene expression analysis showed that expression was augmented only in the PTB reaching fold changes >60 (and showing statistical significance when compared with control group and LTB group (p 0.05 and p 0.001, respectively). 21539878