MUT

GENERAL INFORMATION

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Gene name

MUT

Gene description

Methylmalonyl CoA mutase

Protein class

Disease related genes
Enzymes
FDA approved drug targets
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General granular cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA035971 , HPA035972
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MUT

Synonyms

Description

Methylmalonyl CoA mutase (HGNC Symbol)

Entrez gene summary

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

p12.3

Chromosome location (bp)

49430360 - 49463191

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000146085 (version 78.38)

Entrez gene

4594

UniProt

P22033 (UniProt - Evidence at protein level)

neXtProt

NX_P22033

Antibodypedia

MUT antibodies


PROTEIN BROWSER

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ENST00000274813
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MUT-001 ENSP00000274813
ENST00000274813
P22033
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