Autosomal recessive inheritance The<unk>  is associated with the SMIM1 gene, which is located in the 1p36 region of chromosome 1. This gene produces small integral membrane protein 1, a single-pass transmembrane protein which carries the<unk>  antigen but whose structure and function are otherwise poorly understood. The<unk> -negative phenotype is inherited in an autosomal recessive manner, being expressed by patients who are homozygous for a deletion mutation in the coding region of SMIM1 which renders the gene nonfunctional. Patients who are heterozygous for this mutation, meaning inherited from only one parent, exhibit weakened<unk>  antigen expression. Missense mutations at nucleotide position 152 can also result in a weak<unk>  phenotype, and various single nucleotide polymorphisms in the noncoding regions of SMIM1 affect the strength of<unk>  antigen expression.
Vel blood group
Indian blood group system
Hh blood group
Junior blood group system
P1PK blood group system
Rh blood group system
Sid blood group system
Augustine blood group system