Neurological

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...

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

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...

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, ...

OTOF on chromosome 2p23.3 encodes otoferlin, a calcium sensing protein at the ribbon synapses of the inner hair cells of the cochl...