Human AFG3 ATPase family gene 3-like 2 (yeast) ELISA Kit | AFG3L2 elisa kit

Human AFG3-like protein 2, AFG3L2 ELISA Kit

Cat. Num. AAA9310703

• Gene Names: AFG3L2; SCA28; SPAX5
• Reactivity: Human
• Synonyms: AFG3 ATPase family gene 3-like 2 (yeast); Human AFG3-like protein 2; AFG3L2 ELISA Kit; Human AFG3-like protein 2 (AFG3L2) ELISA kit; FLJ25993; SCA28; AFG3 (ATPase family gene 3; yeast) -like 2; AFG3 ATPase family gene 3-like 2; ATPase family gene 3; yeast; ATPase family gene 3-like 2; spinocerebellar ataxia 28; AFG3L2 elisa kit

• Reactivity: Human

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

NCBI and Uniprot Product Information

• NCBI GI #: 300192933
• NCBI GeneID: 10939
• NCBI Accession #: NP_006787.2
• NCBI GenBank Nucleotide #: NM_006796.2
• UniProt Accession #: Q9Y4W6; Q6P1L0
• Molecular Weight: 88,584 Da
• NCBI Official Full Name: AFG3-like protein 2
• NCBI Official Synonym Full Names: AFG3-like AAA ATPase 2
• NCBI Official Symbol: AFG3L2
• NCBI Official Synonym Symbols: SCA28; SPAX5
• NCBI Protein Information: AFG3-like protein 2; paraplegin-like protein; ATPase family gene 3, yeast; AFG3 ATPase family gene 3-like 2; AFG3 ATPase family member 3-like 2
• UniProt Protein Name: AFG3-like protein 2
• Protein Family: AFG3-like protein
• UniProt Gene Name: AFG3L2
• UniProt Entry Name: AFG32_HUMAN

NCBI Description

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

Uniprot Description

AFG3L2: ATP-dependent protease which is essential for axonal development. Defects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28). It is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. Defects in AFG3L2 are the cause of spastic ataxia autosomal recessive type 5 (SPAX5). A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.

Protein type: Membrane protein, multi-pass; EC 3.4.24.-; Chaperone; Membrane protein, integral; Mitochondrial; Protease; Cell development/differentiation

Chromosomal Location of Human Ortholog: 18p11

Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane

Molecular Function: protein binding; zinc ion binding; metalloendopeptidase activity; unfolded protein binding; ATP binding

Biological Process: myelination; mitochondrial fusion; axonogenesis; cristae formation; righting reflex; death; regulation of multicellular organism growth; nerve development; muscle fiber development; proteolysis; neuromuscular junction development

Disease: Spinocerebellar Ataxia 28; Spastic Ataxia 5, Autosomal Recessive