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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
- UniProt :accession P51610
- OMIM :accession 608320