Gene: NVL

Alternate names for this Gene: NVL2

Gene Summary: This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.11

Description of this Gene: nuclear VCP like

Type of Gene: protein-coding

rs12565875 in NVL gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4653579 in NVL gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.