Inner mitochondrial membrane peptidase subunit 2 (IMMP2L) is a 175 amino acid protein. The gene encoding it is localized on human chromosome 7q31 and spans around 860kb. The gene is expressed in many tissues.
Inmunógeno
Synthetic peptide directed towards the C terminal region of human IMMP2L
Acciones bioquímicas o fisiológicas
Inner mitochondrial membrane peptidase subunit 2 (IMMP2L) modulates reactive oxygen species levels in the mitochondria. It may be associated with Tourette syndrome.
Secuencia
Synthetic peptide located within the following region: GHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE
Forma física
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Cláusula de descargo de responsabilidad
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Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder characterised by motor and vocal tics. Despite decades of research, the aetiology of TS has remained elusive. Recent successes in gene discovery backed by rapidly advancing genomic technologies have given us
European journal of human genetics : EJHG, 22(11), 1283-1289 (2014-02-20)
Tourette syndrome is a neurodevelopmental disorder characterized by multiple motor and vocal tics, and the disorder is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology, but the underlying environmental and
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Petek E
American Journal of Human Genetics, 68(4), 848-858 (2001)
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