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GENATLAS PHENOTYPE

last update : 08-03-2019

Symbol	PBGS
Location	22q13.2
Name	P blood group system
Corresponding gene	A4GALT
Other symbol(s)	P1, PK-P
Main clinical features	including the PK-P and P1 antigens on RBC membranes and the negative P phenotype lacking any antigen
Genetic determination	not applicable
Related entries	including NOR polyagglutination syndrome : Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns
Function/system disorder	hematology
Type	other

Gene product

Name	alpha (1,4) galactosyltransferase distinct non functional alleles without any predominant allele

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
insertion-deletion			Three-base deletion and one responsible for the P phenotype

Remark(s)