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

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

rs724160002 in PLCH2;PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

rs724160002 in PLCH2;PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.