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Table 2 The summary of 9 Genes Present in the Deleted Region

From: A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report

 

Gene

Functions

1

MTUS2 [9]

Adjusts the development and function of the heart and nervous system in vertebrates

2

SLC7A1 [10, 11]

Alters endothelial function,

Decreases L-arginine and nitric oxide (NO) metabolism,

A genetic predisposition to essential hypertension

3

UBL3[22]

Not clear, but UBL3 modification influences protein sorting to small extracellular vesicles

4

KATNAL1 [12, 13]

Regulates the development of neuronal function and behavior

5

HMGB1 [14,15,16]

Encodes a ubiquitous nonhistone chromosomal protein expressed in brain

6

USPL1 [17, 18]

Represents a third type of SUMO protease, with essential functions in Cajal body biology

7

ALOX5AP [19, 20]

Regulates the leukotriene biosynthesis pathway

8

MEDAG

N/A

9

TEX26

N/A

  1. N/A Information not available