Gene: PEX13

Alternate names for this Gene: NALD|PBD11A|PBD11B|ZWS

Gene Summary: This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome.

Gene is located in Chromosome: 2

Location in Chromosome : 2p15

Description of this Gene: peroxisomal biogenesis factor 13

Type of Gene: protein-coding

rs61752115 in PEX13 gene and PEROXISOME BIOGENESIS DISORDER 11B PMID 10332040 1999 Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

PMID 10441568 1999 PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

rs10496090 in PEX13 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.