DISEASES

Disease-gene associations mined from literature

Literature associating ABAT and early infantile epileptic encephalopathy 13

ABAT [ENSP00000379845]

4-aminobutyrate aminotransferase, mitochondrial; Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.

Synonyms:  H3BMJ9,  H3BNQ7,  H3BP74,  H3BP84,  H3BPW8 ...

Linkouts:  STRING  Pharos  UniProt