Name

BSN Gene

bassoon presynaptic cytomatrix protein

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

PCLO Gene

piccolo presynaptic cytomatrix protein

The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

NMTRS-TGA3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1

TRS-TGA3-1 Gene

transfer RNA-Ser (TGA) 3-1

TRS-TGA2-1 Gene

transfer RNA-Ser (TGA) 2-1

Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM, Sep 2009]

TRS-TGA1-1 Gene

transfer RNA-Ser (TGA) 1-1

TRS-CGA3-1 Gene

transfer RNA-Ser (CGA) 3-1

TRS-AGA7-1 Gene

transfer RNA-Ser (AGA) 7-1

TRS-CGA2-1 Gene

transfer RNA-Ser (CGA) 2-1

TRS-TGA4-1 Gene

transfer RNA-Ser (TGA) 4-1

Hong et al. (1992) [PubMed 1549482] sequenced a human serine tRNA by the dideoxysequencing method. Sequence analysis revealed that the gene forms a typical cloverleaf structure with all appropriate conserved bases, and that the anticodon sequence is 5-prime-UGA-3-prime. The gene has no introns and its nucleotide sequence is highly homologous to those of previously characterized serine tRNAs.[supplied by OMIM, Sep 2009]

NMTRS-TGA2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1

TRS-AGA2-6 Gene

transfer RNA-Ser (AGA) 2-6

TRS-AGA3-1 Gene

transfer RNA-Ser (AGA) 3-1

TRS-AGA2-1 Gene

transfer RNA-Ser (AGA) 2-1

TRS-AGA2-4 Gene

transfer RNA-Ser (AGA) 2-4

Hoe et al. (1987) [PubMed 3697066] sequenced a human serine (AGA) tRNA by the dideoxysequencing method and compared it with previously sequenced serine tRNAs.[supplied by OMIM, Sep 2009]

TRS-AGA2-5 Gene

transfer RNA-Ser (AGA) 2-5

TRS-AGA2-2 Gene

transfer RNA-Ser (AGA) 2-2

TRS-AGA2-3 Gene

transfer RNA-Ser (AGA) 2-3

TRS-GCT1-1 Gene

transfer RNA-Ser (GCT) 1-1

NMTRS-TGA1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1

TRS-GCT4-1 Gene

transfer RNA-Ser (GCT) 4-1

TRS-GCT4-3 Gene

transfer RNA-Ser (GCT) 4-3

TRS-GCT4-2 Gene

transfer RNA-Ser (GCT) 4-2

TRS-GCT5-1 Gene

transfer RNA-Ser (GCT) 5-1

TRS-AGA5-1 Gene

transfer RNA-Ser (AGA) 5-1

TRS-CGA4-1 Gene

transfer RNA-Ser (CGA) 4-1

TRS-AGA6-1 Gene

transfer RNA-Ser (AGA) 6-1

TRS-AGA1-1 Gene

transfer RNA-Ser (AGA) 1-1

TRS-ACT1-1 Gene

transfer RNA-Ser (ACT) 1-1

TRS-CGA1-1 Gene

transfer RNA-Ser (CGA) 1-1

TRS-GCT6-1 Gene

transfer RNA-Ser (GCT) 6-1

TRS-GCT2-1 Gene

transfer RNA-Ser (GCT) 2-1

TRS-GCT3-1 Gene

transfer RNA-Ser (GCT) 3-1

TRS-AGA4-1 Gene

transfer RNA-Ser (AGA) 4-1