Preferred Label : Major histocompatibility complex, class i, a;
Obsolete resource : true;
Alternative titles and symbols : Hla-a; Hla-a histocompatibility typemajor histocompatibility complex, class i, h pseudogene; Hla-h; Major histocompatibility complex, class i, j pseudogene; Hla-j;
Description : The human major histocompatibility complex (MHC) has been divided into 3 regions on
chromosome 6p21.3: class II (centromeric), class III, and class I (telomeric), with
extended class I and class II regions on either side. The MHC encodes highly polymorphic
proteins, many of which are associated with the immune system. The products of classical
polymorphic class I genes, human leukocyte antigen-A (HLA-A), HLA-B (142830), and
HLA-C (142840), interact with T-cell receptor (TCR; see 186880) molecules, as well
as killer immunoglobulin-like receptors (KIRs; see 604936) expressed on natural killer
cells and some T cells (review by Trowsdale, 2001). Evidence from amino acid sequences
suggests an evolutionary relatedness of transplantation antigens, immunoglobulins
and beta-2-microglobins (Tragardh et al., 1979). Both the class I MHC antigens (A,
B, and C) and the class II antigens DR and DC1 are polymorphic 2-chain cell surface
glycoproteins; they are recognized by different subsets of T cells and have different
functions, tissue distributions, and structures. The light chain of class I antigens
is beta-2-microglobulin (B2M; 109700), which is coded by chromosome 15. The heavy
chain, coded by chromosome 6, has a molecular mass of 44,000 and is made up of 3 N-terminal
extracellular domains of 90 amino acids each, a small hydrophobic membrane-spanning
segment and a small hydrophilic intracellular C-terminal domain. The 2 N-terminal
domains are polymorphic, bear the carbohydrate and have no sequence homology with
immunoglobulin. The third domain, closest to the membrane, and the 11.6-kD B2M light
chain are highly conserved and have strong sequence homology with immunoglobulin.;
Inheritance : Autosomal dominant (6p23-p21, probably 6p21.3);
Origin ID : 142800;
UMLS CUI : C1333899;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
NCIt concept(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)