DEFA6
defensin alpha 6
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 vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs868528284 | 8:6,782,392 | G/T | — | uncertain significance |
| rs1316919369 | 8:6,782,399 | C/G | — | uncertain significance |
| rs898459728 | 8:6,783,377 | G/C | — | uncertain significance |
| rs567531860 | 8:6,783,389 | C/T | — | uncertain significance |
| rs139059860 | 8:6,783,407 | C/T | — | likely benign |
| rs146649678 | 8:6,783,437 | G/A | stop gained | — |
| rs369140471 | 8:6,783,438 | C/A | — | uncertain significance |
| rs113837602 | 8:6,783,453 | C/G | — | benign |
| rs748526832 | 8:6,783,494 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.