BCAT2

Chr 19q13.33

branched chain amino acid transaminase 2

Aliases:: BCAM, BCATm
MANE:: ENST00000316273.11

OMIM: 113530 ↗NCBI: 587 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BCAT2 · O15382

v62025-08-01

Predicted Aligned Error matrix for BCAT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.1/ 100

Very high

392 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
Unknown

Disease associations (Open Targets)

hypervalinemia and hyperleucine-isoleucinemia
0.68
neurodegenerative disease
0.24
Paralytic ileus
0.13
neoplasm
0.10
cancer
0.09
posterior cortical atrophy
0.08
bladder transitional cell carcinoma
0.07
gastric cancer
0.07
hypotrichosis simplex
0.06
Miyoshi myopathy
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Branched-chain-amino-acid aminotransferase, mitochondrial

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). Branched chain amino acid catabolism plays a role in adipocyte differentiation by providing lipogenic acetyl-CoA pools in differentiated adipocytes (By similarity). Mechanistically, acetyl-CoA derived from branched chain amino acid catabolism is used by EP300/p300 to acetylate and inhibit PRDM16, thereby preventing adipose tissue browning (By similarity). May also function as a transporter of branched chain alpha-keto acids (By similarity)