protein

Recombinant human AFG3-like protein 2

MBS717145

0.05 mg

195 USD

Recombinant Protein

Recombinant human AFG3-like protein 2

AFG3-like protein 2

Recombinant human AFG3-like protein 2 protein

Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA; AFG3-like protein 2; AFG3-like protein 2; paraplegin-like protein; ATPase family gene 3, yeast; AFG3 ATPase family gene 3-like 2 (S. cerevisiae); Paraplegin-like protein

AFG3L2; AFG3L2; SCA28; SPAX5

AFG32_HUMAN

E Coli

ADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMC
MTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFG
MNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRIL
INDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVE
LLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKE
REKEKEEPPGEKVAN

0.95

Store at -20 degree C. For extended storage, conserve at -20 or -80 degree C.

ATP-dependent protease which is essential for axonal development

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

300192932

NP_006787.2

NM_006796.2

Q9Y4W6

49 KD

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]

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.

0.05 mg

195 USD

0.2 mg

465

0.5 mg

815

1 mg

1290