HLA-DPB1 Chromosome 6

Major histocompatibility complex, class II, DP beta 1
1 variant 1 Health Risk

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What This Gene Does
HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. 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. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Histocompatibility complex|C1-set domain containing"
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000223865
Associated Conditions (3)
Beryllium disease
chronic
susceptibility to
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1042140 Health Risk risk factor Beryllium disease, chronic, susceptibility to
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