🧬 基因注释：ABAT

官方名称：4-aminobutyrate aminotransferase

功能摘要：4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• Nova2 综合评分: 0.386 · 证据 1 条
• Tardbp 综合评分: 0.379 · 证据 1 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• MBNL2 综合评分: 0.298 · 证据 1 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• PRPF4 综合评分: 0.212 · 证据 1 条
• Srsf1 综合评分: 0.212 · 证据 1 条

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