Alternative titles and symbols : Dominant lu (a-b-) phenotype;
Description : The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically
by the apparent absence of the Lu antigen (BCAM; 612773) on red blood cells during
serologic tests, i.e., Lu(a-b-). Since it is inherited as an autosomal dominant trait,
it was initially postulated to result from an inhibitor of the Lu antigen. However,
Singleton et al. (2008) found that the phenotype results from a mutation in the transcription
factor KLF1 that regulates expression of the BCAM gene. The Lu-null phenotype, or
autosomal recessive true Lu(a-b-) (247420), is caused by homozygous or compound heterozygous
inactivating mutations in the BCAM gene.;
Currated CISMeF NLP mapping