Skip to main content
. 2015 May 10;24(16):4491–4503. doi: 10.1093/hmg/ddv173

Table 1.

Description of genes analyzed in this study

Symbol Gene name GenBank
accession no.
Function
HAT1 Histone acetyltransferase NM_001033085 NM_003642 Adds acetyl group; promotes transcription.
HDAC1 Histone deacetylase 1 NM_004964 Class I histone deacetylase involved in control of cell proliferation, differentiation, growth and apoptosis; represses transcription.
HDAC6 Histone deacetylase 6 NM_006044 Class II histone deacetylase.
HDAC11 Histone deacetylase 11 NM_024827 Class IV histone deacetylase localized to the nucleus; involved in regulating interleukin 10 expression.
SIN3A Sin3 transcription regulator homolog A (yeast) NM_001145357
NM_001145358
NM_015477
Transcriptional regulator for STAT3;
Promotes deacetylation.
MAT2B Methionine adenosyltransferase II, beta NM_013283 Catalyzes the biosynthesis of S-adenosylmethionine, the major methyl donor; Regulatory beta subunit.
MBD2 methyl-CpG binding domain protein 2 NM_003927 Part of nuclear protein family related by the presence of a methyl-CpG binding domain (MBD). Binds specifically to methylated DNA; represses transcription from methylated gene promoters; functions as a demethylase to activate transcription.
MBD4 Methyl-CpG binding domain protein 4 NM_003925 Binds specifically to methylated DNA;
Involved in protein interactions, and DNA repair.
DNMT1 DNA (cystosine-5) methyltransferase 1 NM_001130823 NM_001379 Methylates CpG residues, preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in newly synthesized strand, essential for epigenetic inheritance.
DNMT3A DNA (cystosine-5) methyltransferase 3A NM_022552
NM_153759
NM_175629
Methylates de novo during development.
Important for genomic imprinting.
DNMT3B DNA (cystosine-5) methyltransferase 3B NM_001207055;
NM_001207056
NM_006892
NM_175848
NM_175849
NM_175850
Methylates de novo during development.
Important for genomic imprinting.
CFH Complement factor H NM_000186 Essential in regulation of complement activation.
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 NM_004105
NM_018894
NM_001039348
NM_001039349
Encoded protein contains tandemly repeated EGF-like repeats followed by C-terminus fibulin-like domain.
NFκB2 Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 NM_001077494
NM_001077493
NM_002502
Subunit of transcription factor complex nuclear factor-kappa-B complex which is central activator of inflammation and immune function genes.
VEGFA Vascular endothelial growth factor A NM_001025366
NM_001025367
NM_001025368
NM_001025369
NM_001025370
NM_001033756
NM_001171622
NM_001171623
NM_001171624
NM_001171625
NM_001171626
NM_001171627
NM_001171628
NM_001171629
NM_001171630
NM_001204384
NM_001204385
NM_003376
Member of PDGF/VEGF growth factor family.
Acts on endothelial cells. Causes increased vascular permeability, angiogenesis, vasculogenesis, endothelial cell growth, cell migration and inhibits apoptosis. Mutations in this gene have been associated with proliferative and non-proliferative diabetic retinopathy.
HPRT1 Hypoxanthine phosphoribosyltransferase 1 NM_000194 Transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate & guanine to guanosine monophosphate. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. Endogenous control.
HMBS Hydroxymethylbilane synthase NM_000190
NM_001024382 NM_001258208 NM_001258209
Member of the hydroxymethylbilane synthase superfamily. Third enzyme of the heme biosynthetic pathway. Catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Endogenous control.
ALAS1 5′-aminolevulinate synthase 1 NM_000688
XM_005264944
This gene encodes the mitochondrial enzyme which catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; the level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate.
TUBB Tubulin, beta class I NM_178014 NM_001293213 This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules.