ALDH6A1

GENERAL INFORMATION

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Gene name

ALDH6A1

Gene description

Aldehyde dehydrogenase 6 family, member A1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in renal tubules and hepatocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending retesting.

Data reliability

Supportive based on 4 antibodies.
HPA029072 , HPA029073 , HPA029074 , HPA029075
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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

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ALDH6A1 (HGNC Symbol)

Synonyms

MMSDH

Description

Aldehyde dehydrogenase 6 family, member A1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Chromosome

14

Cytoband

q24.3

Chromosome location (bp)

74056850 - 74084493

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000119711 (version 78.38)

Entrez gene

4329

UniProt

Q02252 (UniProt - Evidence at protein level)

neXtProt

NX_Q02252

Antibodypedia

ALDH6A1 antibodies


PROTEIN BROWSER

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ENST00000350259
 
ENST00000553458
 
ENST00000555126
 
 
 
 


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)

ALDH6A1-001 ENSP00000450436
ENST00000553458
Q02252
Show all »
Show » Show » 535 57.8 No 1
ALDH6A1-002 ENSP00000342564
ENST00000350259
Q02252
Show all »
Show » Show » 522 56.2 No 1
ALDH6A1-007 ENSP00000452081
ENST00000555126
G3V4Z4
Show all »
Show » Show » 252 27 No 0