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Table 1 Classification of deregulated genes found in patients with Batten disease [4]*

From: Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady

Functional classes Genes Functions of encoded protein Type of action Mild variety of JNCL Classic JNCL
I. Genes coding for receptors and coreceptors GPR109B Receptor of caprilic acid, GPCR, involved in metabolism of lipids and cholesterol. Modifier Down Up
Low affinity receptor for the Fc region of immunoglobulin gamma complexes. Modifier Down Up
MS4A1(CD20) Member of the membrane-spanning 4A gene family. MS4A proteins form signaling complexes with other surface membrane molecules that modulate downstream biochemical signals [26]. Modifier Down Up
II. Genes encoding proteins involved in signal transduction BLK Src-like tyrosine kinase. Modifier Down Up
RAPGEF1 Guanine nucleotide exchange factor activating several members of the Ras family of GTPases. Modifier Down Up
CDC42SE2 CDC42 small effector 2 involved in signal transduction from B-lymphocyte receptors, GPCRs and receptors of tyrosine kinases. Biomarker Down Down
MARCKS Participates in protein kinase C (PKC)-MARCKS-PIP2-PI3K-PIP3 cascade [27]. Modifier Down Up
BACE2 APP cleavage and transcription activation through AICD. Modifier Down Up
III. Genes coding for proteins that impair signaling cascades RGS1 Protein from family of negative regulators of GPCR signaling pathways. Biomarker Up Up
DUSP2 Threonine/tyrosine phosphatase localizing in the nucleus and specifically dephosphorylating MAP superfamily kinases. Biomarker Up Up
IV. Genes encoding transcription factors and components of the RNA polymerase II (RNAPII) KLF6 A member of the Kruppel-like family of transcription factors. Modifier Down Up
SPIB A transcriptional factor (TF) that binds to the PU-box (5′-GAGGAA-3′) and belongs to ETS family of TFs. Modifier Down Up
POLR2J2 A minor isoform of the RNA polymerase II subunit hRPB11 Biomarker Down Down
ZNF718 Zn-finger protein that may be involved in transcriptional regulation. Modifier Down Up
  1. *Functional grouping of the 4 remaining genes (CLLU1, SOLO, LOC283663 and PARP15) is still not clear and needs additional clarification.