BCAT2 - branched chain amino acid transaminase 2 Gene

Homo sapiens

Also known as BCAM; BCT2; HVLI; PP18; BCATM

Gene ID: 587 | Gene type: protein coding

About BCAT2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,795,064-48,811,029 (from NCBI)

This gene has 12 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues.

Summary

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain Amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

BCAT2 Products(3)

mRNA	Protein	Name
NM_001164773.2	NP_001158245.1	branched-chain-amino-acid aminotransferase, mitochondrial isoform b
NM_001190.4	NP_001181.2	branched-chain-amino-acid aminotransferase, mitochondrial isoform a precursor
NM_001284325.2	NP_001271254.1	branched-chain-amino-acid aminotransferase, mitochondrial isoform c

BCAT2 Protein Structure

Aminotran_4

0
100
200
300
392 a.a.

Protein Preferred Names

Protein Names

branched-chain-amino-acid aminotransferase, mitochondrial

branched chain amino-acid transaminase 2, mitochondrial

Recombinant BCAT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79403	BCAT2 Protein, Human (His)	O15382-1 (A28-V392)	≥95%

Related Diseases

Diseases

Alias

Hypervalinemia And Hyperleucine-Isoleucinemia

Hypervalinemia Or Hyperleucine-Isoleucinemia	HVLI
Branched-Chain Aminotransferase Deficiency

Hyperleucine-Isoleucinemia

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148242	BAY-069		99.58%	Unkown
HY-148242A	BAY-252		99.83%	Unkown
HY-156965	BAY-771		/	Unkown
HY-RS01403	BCAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BCAT2	RGD	RGD:68948
Canis familiaris	BCAT2	VGNC	VGNC:38402
Mus musculus	BCAT2	MGD	MGI:1276534
Bos taurus	BCAT2	VGNC	VGNC:26440
Felis catus	BCAT2	VGNC	VGNC:69203
Macaca mulatta	BCAT2	VGNC	VGNC:70237
Others	BCAT2	NCBI

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