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Maltase-glucoamylase pseudogene

Molecular classification
Other (pseudogene)
01

Overview

The maltase-glucoamylase pseudogene (ENSG00000257586, LOC100421126) is a nonfunctional DNA segment in the human genome that resembles the functional maltase-glucoamylase (MGAM) gene. Pseudogenes are typically generated through gene duplication or retrotransposition events; they contain disabling mutations (such as frame shifts or premature stop codons) that prevent them from producing functional proteins[3][1]. While some pseudogenes can exert regulatory effects as noncoding RNAs in certain contexts, most—including this maltase-glucoamylase pseudogene—are considered genetic relics without encoded biological or pharmacological function[5]. The active maltase-glucoamylase protein, by contrast, is an intestinal enzyme involved in carbohydrate digestion[2][4][6]. This pseudogene is not considered a drug target, receptor, enzyme, transporter, or biomarker, nor is it relevant to therapeutic development or disease diagnosis.

Other names
LOC100421126ENSG00000257586
02

Biological functions

Other (pseudogenes generally do not have a biochemical function; some pseudogenes may affect gene regulation through noncoding RNAs, but there is no evidence this one does[3][5])
03

Disease associations

Other (no established disease relevance for this pseudogene)

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