Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PROX1 contributors: SGE/npt - updated : 25-02-2015
HGNC name prospero-related homeobox 1
HGNC id 9459
ASSOCIATED DISORDERS
corresponding disease(s) HLHS3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
in adult-onset obesity with abnormal lymph leakage from mispatterned and ruptured lymphatic vessels
tumoral     --low  
in primary lymphoid malignancies by aberrant DNA methylation
constitutional     --low  
reduced expression of PROX1 by cis-regulatory variants results in altered beta-cell insulin secretion and thereby confers susceptibility to type 2 diabetes
Susceptibility
Variant & Polymorphism
Candidate gene
  • should be considered as a potential candidate gene for cases of hypoplastic left heart(Gill 2009)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS