Gene: MINDY1
Alternate names for this Gene: FAM63A|MINDY-1
Gene Summary:
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.3
Description of this Gene: MINDY lysine 48 deubiquitinase 1
Type of Gene: protein-coding
Gene: PRUNE1
Alternate names for this Gene: DRES-17|DRES17|H-PRUNE|HTCD37|NMIHBA|PRUNE
Gene Summary: This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.3
Description of this Gene: prune exopolyphosphatase 1
Type of Gene: protein-coding
rs1553251507 in
MINDY1;PRUNE1 gene and
Muscle hypotonia
PMID 28334956 2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 28211990 2017 Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.