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

From: Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

gene symbol name OMIM # description function
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.