LGI1 Recombinant Rabbit Monoclonal Antibody [JE54-88] (ET7110-86)

UNIPROT #

O95970

PROTEIN NAME

LGI1

SYNONYMS

ADLTE antibody;ADPAEF antibody;ADPEAF antibody;Epitempin 1 antibody;EPITEMPIN antibody;Epitempin-1 antibody;EPT antibody;ETL1 antibody;IB1099 antibody;leucine rich glioma inactivated 1 antibody;Leucine rich glioma-inactivated protein 1 antibody;Leucine-rich glioma-inactivated protein 1 antibody;LGI1 antibody;LGI1_HUMAN antibody;OTTHUMP00000020121 antibody;OTTHUMP00000020122 antibody

TISSUE SPECIFICITY

Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. Isoform 1 is absent in the cerebellum and is detectable in the occipital cortex and hippocampus; higher amounts are observed in the parietal and frontal cortices, putamen, and, particularly, in the temporal neocortex, where it is 3.5 times more abundant than in the hippocampus (at protein level). Isoform 3 shows the highest expression in the occipital cortex and the lowest in the hippocampus (at protein level).

POST-TRANSLATIONAL MODIFICATION

Glycosylated.

SUBCELLULAR LOCATION

Secreted, synapse.

FUNCTION

Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the LGI1 gene. It may be a metastasis suppressor. The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Since its earliest discovery, the LGI1 gene has been implicated in the control of cancer metastasis and in a predisposition to epilepsy. Following genetic linkage studies placing the hereditary form of autosomal dominant partial epilepsy with auditory features (ADPEAF) on chromosome region 10q24 mutation analysis of affected members in these families demonstrated LGI1 was a major cause of the disease.