Alt. symbols: SRK | ZAP-70 | STD

Approved name: zeta chain of T cell receptor associated protein kinase 70
Alt. names: SRK | tyrosine-protein kinase ZAP-70

Location: 2q11.2: 97713576 - 97744327 (+)
Gene type: protein_coding, 11 transcripts.

Scores: LoFtool: 0.053300 | pLI: 0.27266725 | LOEUF: 0.364

HGNC: 12858

NCBI: 7535, RefSeq: NG_007727.1

Ensembl: ENSG00000115085.16

LRG_126 | Status: public

OMIM: 176947

Expression | ProteinAtlas

The ZAP70 gene encodes the called zeta-chain-associated protein kinase. This protein interacts with the zeta-chain of the T-cell receptor (TCR), and it is predominantly expressed in T and NK cells. ZAP70 is part of the signalling pathway that activates T cells and directs their development. Thus, ZAP70 is important for the development and function of several T cells subtypes. These include cytotoxic (CD8+) T cells, and helper (CD4+) T cells.

Biallelic mutations in ZAP70 cause an autosomal recessive form of severe combined immunodeficiency (SCID) that is also known as Immunodeficiency 48 (IMD48) [MIM:269840]. Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections. Patients usually present pneumonias, hepatomegaly and or splenomegaly, Candidiasis and eczematous rashes, reduced number of CD8 T cells and abundant number of CD4 T cells, and number number of B cells but with reduced function. Mutations in ZAP70 have also been associated with autoimmune disease, multisystem, infantile-onset, 2 [MIM:617006]. [Load More]