GZMB

(redirected from CGL1)

GZMB

A gene on chromosome 14q11.2 that encodes an enzyme necessary for target cell lysis in cell-mediated immune responses, and which is linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis. GZMB cleaves caspase-3, -7, -9 and -10, activating enzymes that mediate apoptosis.
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References in periodicals archive ?
Several responsible genes have been identified: 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2, CGL1) (3), Berardinelli-Seip congenital lipodystrophy 2 (BSCL2, CGL2) (4), caveolin 1 (CAV1, CGL3) (5), and polymerase I and transcript release factor (PTRF, CGL4) (6, 7).
A total of 13 patients with generalized lipodystrophies (12 patients with CGL: 7 patients with CGL1, 3 patients with CGL2, and 2 patients with CGL4; and 1 patient with AGL) and 19 patients with partial lipodystrophy (12 patients with FPLD and 7 patients with APL) were included between September 2013 and December 2015.
We evaluated 7 CGL1 patients with mutations in the AGPAT2 gene, all of whom exhibited nearly complete loss of adipose tissue.
Adipose tissue was preserved (at normal levels) in the scalp, earlobes, retro-orbital region, palms, and soles of CGL1 patients caused by AGPAT2 mutations.
Although four different CGL syndromes have been defined, 95% of reported patients correspond to CGL1 or CGL2 patients.
AGPAT2 mutations were found predominantly in patients of African ancestry which means that CGL1 is the major type of CGL in populations of African origin.