AP4M1

Gene name: adaptor-related protein complex 4, mu 1 subunit
OMIM ID: 602296
Chromosome location: 7q22.1

Mutations

Disease/Phenotype	Cerebral palsy, spastic quadriplegic, 3, formerly
Reference transcript	NM_004722.3
DNA Change	c.1137+1G>T
A.A. Change
Exon/Intron	intron 14
Mutation Type	substitution
Reference	Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, et al.Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet. 2009 Jul;85(1):40-52.

---