Gene: HLA-DMB

Alternate names for this Gene: D6S221E|RING7

Gene Summary: HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DM beta

Type of Gene: protein-coding

Gene: HLA-DMA

Alternate names for this Gene: D6S222E|DMA|HLADM|RING6

Gene Summary: HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DM alpha

Type of Gene: protein-coding

rs1050391 in HLA-DMB;HLA-DMA gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.