ABCMdb

PMID: 23316210

Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.
Front Genet. 2013 Jan 2;3:306. doi: 10.3389/fgene.2012.00306. eCollection 2012., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC11 p.Gly180Arg The secretory materials are contained within secretory vesicles and are released during secretion as cytoplasmic fragments into the glandular lumen or interstitial space.The recent finding that the non-synonymous single nucleotide polymorphisms (SNP) 538G > A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in humans has shed light on the novel function of this ABC (ATP-binding cassette) transporter in apocrine glands.The wild-type (Gly180) of ABCC11 is associated with wet-type earwax, axillary osmidrosis, and colostrum secretion from the mammary gland as well as the potential risk of mastopathy. Login to comment 23 ABCC11 p.Gly180Arg A non-synonymous SNP: 538G > A (Gly180Arg), an earwax determinant, is located in exon 4. Login to comment 32 ABCC11 p.Gly180Arg Among those SNPs, one SNP (rs17822931; 538G > A, Gly180Arg) determines the human earwax type (Yoshiura et al., 2006). Login to comment 43 ABCC11 p.Gly180Arg G180R and Ɗ27 are related to the formation of dry-type earwax. Login to comment 141 ABCC11 p.Gly180Arg Therefore, we have most recently carried out a genotyping study of the SNP 538G > A (Gly180Arg) for a total of 543 Japanese women to examine the association between the frequency rate of breast cancer and the allelic frequency of the G allele (WT). Login to comment 204 ABCC11 p.Gly180Arg Although the biochemical and physiological pathways that regulate the apocrine secretory process are not clearly known, our recent findings (Yoshiura et al., 2006; Toyoda et al., 2009; Inoue et al., 2010) that the SNP (538G > A, Gly180Arg) in the ABCC11 gene determines both earwax type and axillary osmidrosis have shed light on the novel function of thisABC transporter in apocrine glands. Login to comment