Table 1 Genes within the 2q22.1 to 2q22.3 deleted region according to OMIM[9]

HNMT

NM_006895

605238

Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1.

It metabolizes Histamine in mammals. This gene encodes the first enzyme, which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

SPOPL

NM_001001664

Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA

-

NXPH2

NM_007226

604635

Homo sapiens neurexophilin 2 (NXPH2), m RNA.

-

LOC647012

NR_033658

Homo sapiens YY1 transcription factor pseudogene (LOC647012), non-coding RNA.

-

LRP1B

NM_018557

608766

LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B

LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands.

KYNU

NM_001032998; NM_003937

605197

Homo sapiens kynureninase (KYNU)

Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants.

ARHGAP15

NM_018460

610578

Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA

RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15

GTDC1

NM_018460; NM_024659; NM_001006636

61065

Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1)

GTDC1 is ubiquitous expressed at relatively high levels in lung, spleen, testis, and peripheral blood leukocytes, suggesting that it may have biochemical functions in these organs.