INT315572

Context Info Confidence 0.20 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 0.94 Pain Relevance 0

cytosol (ACO1) mitochondrion (ACO1) lyase activity (ACO1) Golgi apparatus (ACO1) endoplasmic reticulum (ACO1) RNA binding (ACO1)

Anatomy Link Frequency fibroblasts 1 ACO1 (Homo sapiens)

Pain Link Frequency Relevance Heat Pain 4 5.00 Glutamate 2 5.00

Disease Link Frequency Relevance Heat Iron Overload 48 99.88 Muscle Disease 18 83.84 Hyperplasia 2 77.08 Neurologic Manifestations 2 71.32 Ataxia 48 69.24 Cirrhosis 2 68.52 Diabetes Mellitus 4 67.92 Sideroblastic Anemia 30 66.80 Anaemia 36 58.40 Disease 54 50.00

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

S cluster, IRP1 is activated to become an IRE-binding protein, which increases the rate of cellular iron uptake and decreases the rate of iron sequestration by stabilizing TfR1 mRNA and repressing ferritin synthesis.

Positive_regulation (activated) of IRP1

1) Confidence 0.20 Published 2010 Journal Biochemistry Section Body Doc Link PMC2885827 Disease Relevance 0.09 Pain Relevance 0

A recent rescue experiment of GLRX5 patient fibroblasts using a lentiviral vector that carries the wild-type GLRX5 gene sequence demonstrated that restored GLRX5 expression could improve cell growth, reverse mitochondrial iron overload, and increase aconitase activity (Figure 4) (32).

Positive_regulation (increase) of aconitase in fibroblasts associated with iron overload

2) Confidence 0.18 Published 2010 Journal Biochemistry Section Body Doc Link PMC2885827 Disease Relevance 0.86 Pain Relevance 0

General Comments

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