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In all vertebrates, SV2 proteins are abundant, hydrophobic, membrane glycoproteins that are expressed as two major isoforms, SV2A and SV2B, and one minor isoform, SV2C. SV2 proteins are differentially expressed in the brain and are present on all synaptic vesicles, independent of transmitter type. SV2A is abundantly expressed in the subcortex, specifically in the synaptic vesicles of all presynaptic nerve terminals, and also in most neuroendocrine secretory granules. SV2B displays a more re

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hema

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hema

Cyclin M2, also known as CNNM2 or ACDP2 (ancient conserved domain-containing protein 2), is an 875 amino acid multi-pass membrane protein that contains two CBS domains and belongs to the ACDP family. Expressed in a variety of tissues with highest expression in placenta, brain and kidney, cyclin M2 functions as a divalent metal cation transporter that mediates the transport of several different metal cations, including Mg2+, Co2+ and Fe2+. Cyclin M2 exists as multiple alternatively spliced is

Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cle