LP422605-8

CD79A gene

Active

Description

The CD79A and CD79B genes, located on chromosomes 19 and 17, respectively, encode the alpha and beta chains of the B-cell antigen receptor complex-associated protein. When an antigen binds to the B-cell antigen receptor (BCR) complex, the B-cell antigen receptor complex-associated protein initiates a signal transduction cascade that results in internalization of the BCR complex, transport to late endosomes, and antigen presentation. The alpha chain also plays a role in cell surface expression of the BCR and differentiation of pro- and pre-B-cells. Two different CD79A mutations that lead to a truncated alpha chain are associated with agammaglobulinemia 3, an autosomal recessive disease associated with low or absent serum antibodies and circulating B-cells that is characterized by severe infections early in childhood. [UniProt: P11912] [UniProt: P40259] Source: Regenstrief LOINC

Basic Part Properties

Part Name

CD79A gene

Part Display Name

CD79A gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2021-02-22

Construct for LOINC Short Name

CD79A

Related Codes

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