Neurological

APOE on chromosome 19q13.32 encodes apolipoprotein E, a major cholesterol carrier in the brain and a component of lipoproteins in ...

HTT on chromosome 4p16.3 encodes huntingtin, a large protein involved in vesicle transport, transcriptional regulation, and neuron...

SNCA on chromosome 4q22.1 encodes alpha synuclein, a presynaptic neuronal protein involved in synaptic vesicle trafficking and neu...

LRRK2 Leucine Rich Repeat Kinase 2 on chromosome 12q12 encodes a large multidomain protein with both kinase and GTPase activity, i...

GBA, now officially named GBA1, on chromosome 1q22 encodes glucocerebrosidase, a lysosomal enzyme that breaks down the lipid gluco...

FMR1 on chromosome Xq27.3 encodes FMRP, the fragile X messenger ribonucleoprotein, an RNA binding protein that regulates local tra...

SCN9A on chromosome 2q24.3 encodes Nav1.7, a voltage gated sodium channel highly expressed in pain sensing nociceptor neurons and ...

COMT Catechol O Methyltransferase on chromosome 22q11.21 encodes an enzyme that inactivates catecholamines, including dopamine, no...

SMN1 Survival Motor Neuron 1 on chromosome 5q13.2 encodes the SMN protein, which is essential for the assembly of small nuclear ri...

SOD1 on chromosome 21q22.11 encodes copper zinc superoxide dismutase, an abundant cytoplasmic antioxidant enzyme that converts sup...

PMP22 Peripheral Myelin Protein 22 on chromosome 17p12 encodes a small membrane glycoprotein that is a component of compact myelin...

MECP2 on chromosome Xq28 encodes methyl CpG binding protein 2, a chromatin protein that binds methylated DNA and is especially abu...

PRNP on chromosome 20p13 encodes the prion protein, PrP, a cell surface glycoprotein anchored to the membrane and highly expressed...

MAPT on chromosome 17q21.31 encodes tau, a microtubule associated protein abundant in neuronal axons that promotes the assembly an...

FXN on chromosome 9q21.11 encodes frataxin, a small mitochondrial protein involved in the assembly of iron sulfur clusters, which ...

APP on chromosome 21q21.3 encodes amyloid precursor protein, a transmembrane protein highly expressed in neurons. Sequential cutti...

PSEN1 on chromosome 14q24.2 encodes presenilin 1, the catalytic component of the gamma secretase complex that cleaves amyloid prec...

C9orf72, an open reading frame on chromosome 9p21.2, encodes a protein involved in membrane trafficking and autophagy. In 2011 two...

PRKN on chromosome 6q26 encodes parkin, an E3 ubiquitin ligase that tags proteins for degradation. Working with the kinase PINK1, ...