Gene: PEX1

Alternate names for this Gene: HMLR1|PBD1A|PBD1B|ZWS|ZWS1

Gene Summary: This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: peroxisomal biogenesis factor 1

Type of Gene: protein-coding

Gene: RBM48

Alternate names for this Gene: C7orf64|HSPC304

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: RNA binding motif protein 48

Type of Gene: protein-coding

rs766020928 in PEX1;RBM48 gene and Infantile Refsum Disease (disorder) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs762679408 in PEX1;RBM48 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.