SEPT9 Polyclonal Antibody, 100ul Oligo Pool Mutations in PNPT1 have been

Mutations in PNPT1 have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70

and in smooth muscle cell-containing tissues

remodelling of membrane lipids

Mutations in this gene have been associated with congenital myasthenic syndrome

SEPT9 Polyclonal Antibody, 100ul Oligo Pool Mutations in PNPT1 have beenThis gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript