Analysis of ASAH1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1874-LGZ)

Introduction

Official Full Name: N-acylsphingosine amidohydrolase 1
Also known as: AC; PHP; ASAH; PHP32; ACDase; SMAPME
This gene encodes a protein of the acid ceramidase family. Alternative splicing results in variants in multiple transcripts, at least one of which encodes a proprotein that is proteolytically processed. Processing of this preproprotein produces α and β subunits, which heterodimerize to form mature lysosomal enzymes that catalyze the degradation of ceramides to sphingosine and free fatty acids. This enzyme is overexpressed in a variety of human cancers and may play a role in cancer progression. Mutations in this gene have been associated with lysosomal storage disorders, Farber lipogranulomatosis, neuromuscular disorders, and spinal muscular atrophy with progressive myoclonic epilepsy.