H2-EA-PS

This locus belongs to the class II major histocompatibility complex (MHC) family of genes, which encode immune response (Ia) antigens that function in the T-cell-dependent immune response. This family member has multiple haplotypes, some of which result in the production of an E-alpha subunit that combines with an E-beta subunit to form a functional E complex at the cell surface. Other haplotypes, including that of the reference genome allele, contain mutations and they thus represent polymorphic pseudogenes that do not produce functional products. These mutations include frameshifting indels, nonsense mutations, and deletions of larger regions. The reference genome haplotype contains a deletion at the 5 end of the gene, including the core promoter region and the transcription start site, and therefore no transcripts result from this haplotype. [provided by RefSeq, Aug 2010]