Home > Gene Browser > DEFA1B

DEFA1B

Synonyms
HNP-1, HP-1, HP1
External resources
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. 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. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
16
Likely benign
0
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DEFA1B gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes