Go to Advanced Search
DEFA1 |
LOCUS ID | 1667 | |||||||||||||
GENE_SYMBOL | DEFA1 | |||||||||||||
GENE NAME | defensin, alpha 1 | |||||||||||||
SYNONYMNS | HP1, MRS, DEF1, HP-1, DEFA2, HNP-1 | |||||||||||||
CHROMOSOME | 8 | |||||||||||||
HOMOLOGENE ID | 128756 |
microRNAs | NA | NA |
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 |
Nephropathy | 1. 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 |
Tuberculosis | 1. 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 |