AFG3-like protein 2 Recombinant Protein | AFG3L2 recombinant protein

Recombinant human AFG3-like protein 2

Cat. Num. AAA717145

• Gene Names: AFG3L2; SCA28; SPAX5
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: AFG3-like protein 2; Recombinant human AFG3-like protein 2; Recombinant human AFG3-like protein 2 protein; AFG3L2 recombinant protein

• Host: E Coli
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Liquid containing glycerol
• Sequence: ADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN

• Preparation and Storage: Store at -20 degree C. For extended storage, conserve at -20 or -80 degree C.

SDS-PAGE

Related Product Information for AFG3L2 recombinant protein

ATP-dependent protease which is essential for axonal development

References

[1] "Identification and characterization of AFG3L2, a novel paraplegin-related gene."

NCBI and Uniprot Product Information

• NCBI GI #: 300192932
• NCBI GeneID: 10939
• NCBI Accession #: NP_006787.2
• NCBI GenBank Nucleotide #: NM_006796.2
• UniProt Accession #: Q9Y4W6; Q6P1L0
• Molecular Weight: 49 KD
• NCBI Official Full Name: Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA
• NCBI Official Synonym Full Names: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
• 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
• 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

Function: ATP-dependent protease which is essential for axonal development

By similarity.

Cofactor: Binds 1 zinc ion per subunit

Potential.

Subunit structure: Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I. Ref.3 Ref.4

Subcellular location: Mitochondrion membrane; Multi-pass membrane protein Ref.1.

Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells. Ref.9

Involvement in disease: Defects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28) [

MIM:610246]. 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. Ref.7 Ref.8 Ref.9Defects in AFG3L2 are the cause of spastic ataxia autosomal recessive type 5 (SPAX5) [

MIM:614487]. A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Ref.10

Sequence similarities: In the N-terminal section; belongs to the AAA ATPase family.In the C-terminal section; belongs to the peptidase M41 family.