Gene: LOC105371749
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ZNHIT3
Alternate names for this Gene: Hit1|PEHO|TRIP3
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17q12
Description of this Gene: zinc finger HIT-type containing 3
Type of Gene: protein-coding
rs148890852 in
LOC105371749;ZNHIT3 gene and
PEHO syndrome
PMID 28335020 2017 By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome.