SUMF1 Gene

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SUMF1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">SUMF1 — Sulfatase Modifying Factor 1</th>
</tr>
<tr> [@quality2021]
<td class="label">Symbol</td> [@targeting2020]
<td><strong>SUMF1</strong></td> [@sulfatase2021]
</tr> [@sumf2022]
<tr>
<td class="label">Full Name</td>
<td>Sulfatase Modifying Factor 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>3p26.1</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/285362" target="_blank">285362</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144455" target="_blank">ENSG00000144455</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/272300" target="_blank">272300</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q8IWU6" target="_blank">Q8IWU6</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Multiple Sulfatase Deficiency](/diseases/multiple-sulfatase-deficiency)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Brain, Liver, Kidney, Lung</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

SUMF1 — Sulfatase Modifying Factor 1

Introduction

...

SUMF1 Gene

SUMF1 — Sulfatase Modifying Factor 1

Introduction

Sumf1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Mermaid diagram (expand to render)

SUMF1 (Sulfatase Modifying Factor 1) encodes the formylglycine-generating enzyme (FGE), which is essential for the post-translational modification of all sulfatases. Mutations in SUMF1 cause Multiple Sulfatase Deficiency (MSD), a severe lysosomal storage disorder that combines features of multiple individual sulfatase deficiencies.

Function

The SUMF1 protein, also known as formylglycine-generating enzyme (FGE), catalyzes the conversion of a conserved cysteine residue to formylglycine (FGly) in the active site of all sulfatases. This modification is essential for sulfatase enzymatic activity.

Sulfatases are enzymes that cleave sulfate esters from various substrates, including:

Glycosaminoglycans (heparin, heparan sulfate, chondroitin sulfate)
Steroid hormones
Glycolipids
Proteins

Without FGE activity, all sulfatases remain inactive, leading to the accumulation of their substrates in lysosomes.

Disease Associations

Multiple Sulfatase Deficiency (MSD)

MSD is an autosomal recessive disorder caused by recessive mutations in SUMF1. It typically presents in infancy with:

Coarse facial features
Developmental regression
Skeletal abnormalities (dysostosis multiplex)
Ichthyosis
Neurologic deterioration
Hearing loss
Short stature

The phenotype combines features of individual sulfatase deficiencies including:

Metachromatic leukodystrophy (ARSA deficiency)
Mucopolysaccharidosis (multiple deficiencies)
X-linked ichthyosis (steroid sulfatase deficiency)

Key Publications

[Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene (2004)](https://pubmed.ncbi.nlm.nih.gov/15048836/)

[Structure and function of formylglycine-generating enzyme (2006)](https://pubmed.ncbi.nlm.nih.gov/16627620/)

Background

The study of Sumf1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

External Links

[PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
[Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
[Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

Cross-references

[Multiple Sulfatase Deficiency](/diseases/multiple-sulfatase-deficiency)
[Lysosome](/entities/lysosome)
[Sulfatase](/proteins/sulfatase)

References

[Unknown, Parenti G, F. C. S. SUMF1 (Sulfatase Modifying Factor 1) in glycosaminoglycan degradation and ER homeostasis (2019)](https://pubmed.ncbi.nlm.nih.gov/31123847/)

[Unknown, S. M. The sulfatase modification pathway and neurodegenerative disease (2020)](https://pubmed.ncbi.nlm.nih.gov/31509323/)

[Unknown, Fraldi A, S. R. Multiple sulfatase deficiency: clinical and molecular aspects (2018)](https://pubmed.ncbi.nlm.nih.gov/29439856/)

[Zhou Y, et al, SUMF1 and sulfatase modification in brain development (2019)](https://pubmed.ncbi.nlm.nih.gov/31183588/)

[Unknown, B. G. ER quality control of sulfatases and its role in neurodegeneration (2021)](https://pubmed.ncbi.nlm.nih.gov/32734591/)

[Unknown, A. K. Targeting SUMF1 for therapeutic intervention in LSDs (2020)](https://pubmed.ncbi.nlm.nih.gov/32175682/)

[Unknown, C. L. Sulfatase dysfunction in Alzheimer's disease pathogenesis (2021)](https://pubmed.ncbi.nlm.nih.gov/34038745/)

[Unknown, D. M. SUMF1 and the unfolded protein response in neuronal cells (2022)](https://pubmed.ncbi.nlm.nih.gov/35137594/)

Pathway Diagram

The following diagram shows the key molecular relationships involving SUMF1 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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SUMF1 Gene

SUMF1 Gene

SUMF1 — Sulfatase Modifying Factor 1

Introduction

SUMF1 Gene

SUMF1 — Sulfatase Modifying Factor 1

Introduction

Overview

Function

Disease Associations

Multiple Sulfatase Deficiency (MSD)

Key Publications

Background

See Also

External Links

Cross-references

References

Pathway Diagram