Gene Symbol ATP13A2
Gene ID 23400
Chromosomal Location 1p36
Genomic RefSeqGene NG_009054.1 32971 bp
Transcript RefSeq NM_022089.2 3996 bp
Protein RefSeq NP_071372.1 1180 aa
No. patients 4
No. families 1
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Changes in the same gene Changes in other genes Phenotype Age of onset Histology Country of origin Country of residence Reference PMID Notes
Pa-cln12.001 385_II-1_Bras_2012 p.Met810Arg p.Met810Arg     vJNCL/ANCL 13  y GROD lamellar structures Belgium   Bras et al. 2012 22388936 sibs
Pa-cln12.002 385_II-5_Bras_2012 p.Met810Arg p.Met810Arg vJNCL/ANCL 14 y GROD lamellar structures Belgium Bras et al. 2012 22388936  
Pa-cln12.003 385_II-8_Bras_2012 p.Met810Arg p.Met810Arg vJNCL/ANCL 13  y GROD lamellar structures Belgium Bras et al. 2012 22388936  
Pa-cln12.004 385_II-9_Bras_2012 p.Met810Arg p.Met810Arg     vJNCL/ANCL 16 y GROD lamellar structures Belgium   Bras et al. 2012 22388936  
Notes
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
Mutations in ATP13A2 also cause Kufor-Raheb syndrome