PEX1

Gene name: peroxisomal biogenesis factor 1
OMIM ID: 602136
Chromosome location: 7q21.2

Mutations

Disease/Phenotype	Heimler syndrome 1
Reference transcript	NM_000466.2
DNA Change	c.3750G>A
A.A. Change	p.Trp1250*
Exon/Intron	exon 23
Mutation Type	substitution
Reference	Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.

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