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dry earwax phenotype

Human earwax is a mendelian trait consisting of wet & dry types. The wet earwax is brownish and sticky, whereas the dry type lacks cerumen. Epidemiology: 1) frequently (80-95%) among East Asians 2) uncommon (0-3%) in populations of European or African origin 3) Intermediate frequencies (30-50%) of the dry type in populations a) Southern Asia b) Pacific Islands c) Central Asia d) Asia Minor e) Native North American f) Inuit of Asian ancestry Genetics: 1) allele with Arg-184 in the ABCC11 gene is responsible for the dry earwax phenotype. 2) autosomal recessive Intermediate frequencies (30-50%) of dry type earwax are seen in populations of Southern Asia, the Pacific Islands, Central Asia & Asia Minor, as well as among the Native North American & Inuit of Asian ancestry.

Related

ATP-binding cassette transporter sub-family C member 11; multidrug resistance-associated protein 8 (ABCC11, MRP8) cerumen

General

genetic disease of the exocrine function otorhinolaryngologic disease; ear, nose & throat (ENT) disease

Database Correlations

OMIM 605990

References

  1. UniProt :accession P51610
  2. OMIM :accession 608320