Harmonizome 3.0

pyridoxal (pyridoxine, vitamin B6) kinase

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

pyridoxal (pyridoxine, vitamin B6) phosphatase

Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]

Epilepsy, idiopathic generalized, susceptibility to 4

Epilepsy, familial temporal lobe, 6

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Epilepsy, idiopathic generalized, susceptibility to 3

Epilepsy, idiopathic generalized, susceptibility to 2

centralopathic epilepsy

Epilepsy, idiopathic generalized, susceptibility to, 5

epilepsy, familial temporal lobe

epilepsy, occipitotemporal lobe, and migraine with aura

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Epilepsy, juvenile myoclonic 3

epilepsy, juvenile myoclonic 2

Myoclonic epilepsy, juvenile, 4

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Epilepsy, juvenile myoclonic, susceptiblity to, 9

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures plus, type 6

Epilepsy, generalized, with febrile seizures plus, type 4

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

Epilepsy, hot water, 1

Epilepsy, hot water, 2

Infantile myoclonic epilepsy

Epilepsy, familial mesial temporal lobe

Epilepsy, partial, with variable foci

epilepsy, childhood absence 1

epilepsy, generalized, idiopathic

Epilepsy, partial, with pericentral spikes

Epilepsy, nocturnal frontal lobe, type 2