Human GRB10 interacting GYF protein 2 ELISA Kit | GIGYF2 elisa kit

Human PERQ amino acid-rich with GYF domain-containing protein 2, GIGYF2 ELISA Kit

Cat. Num. AAA9338343

• Gene Names: GIGYF2; GYF2; PERQ2; PERQ3; PARK11; TNRC15
• Reactivity: Human
• Synonyms: GRB10 interacting GYF protein 2; Human PERQ amino acid-rich with GYF domain-containing protein 2; GIGYF2 ELISA Kit; Human PERQ amino acid-rich with GYF domain-containing protein 2 (GIGYF2) ELISA kit; DKFZp686I15154; DKFZp686J17223; FLJ23368; GYF2; KIAA0642; PARK11; PERQ2; PERQ3; TNRC15; GYF domain containing 2; OTTHUMP00000203484; PERQ amino acid rich; with GYF domain 2; with; GIGYF2 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 156766043
• NCBI GeneID: 26058
• NCBI Accession #: NP_001096616.1
• NCBI GenBank Nucleotide #: NM_001103146.1
• UniProt Accession #: Q6Y7W6; O75137; Q7Z2Z8; Q7Z3I2; Q96HU4; Q9NV82; A6H8W4; B9EG55; E9PBB0
• Molecular Weight: 150,070 Da
• NCBI Official Full Name: PERQ amino acid-rich with GYF domain-containing protein 2 isoform b
• NCBI Official Synonym Full Names: GRB10 interacting GYF protein 2
• NCBI Official Symbol: GIGYF2
• NCBI Official Synonym Symbols: GYF2; PERQ2; PERQ3; PARK11; TNRC15
• NCBI Protein Information: PERQ amino acid-rich with GYF domain-containing protein 2; PERQ amino acid rich, with GYF domain 3; trinucleotide repeat-containing gene 15 protein; Parkinson disease (autosomal recessive, early onset) 11
• UniProt Protein Name: PERQ amino acid-rich with GYF domain-containing protein 2
• Protein Family: PERQ amino acid-rich with GYF domain-containing protein
• UniProt Gene Name: GIGYF2
• UniProt Synonym Gene Names: KIAA0642; PERQ2; TNRC15
• UniProt Entry Name: PERQ2_HUMAN

NCBI Description

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Uniprot Description

TNRC15 iso1: May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors. Defects in GIGYF2 are may be the cause of Parkinson disease type 11 (PARK11). A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Belongs to the PERQ family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: membrane; cytoplasm

Biological Process: G1 DNA damage checkpoint; cellular protein metabolic process; insulin-like growth factor receptor signaling pathway; adult locomotory behavior; homeostasis of number of cells within a tissue; negative regulation of translation; multicellular organism growth; feeding behavior; neuromuscular process controlling balance; musculoskeletal movement; spinal cord motor neuron differentiation; post-embryonic development

Disease: Parkinson Disease 11, Autosomal Dominant