Gene: PEX10

Alternate names for this Gene: NALD|PBD6A|PBD6B|RNF69

Gene Summary: This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: peroxisomal biogenesis factor 10

Type of Gene: protein-coding

Gene: PLCH2

Alternate names for this Gene: PLC-L4|PLC-eta2|PLCL4|PLCeta2

Gene Summary: PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009].

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: phospholipase C eta 2

Type of Gene: protein-coding

rs886041314 in PEX10;PLCH2 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 25179809 2014 High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

rs62636524 in PEX10;PLCH2 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 25179809 2014 High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.