Recombinant Full Length Human DNM1L Protein, GST-tagged

• Cat.No.: DNM1L-4043HF
• Product Overview: Human DNM1L full-length ORF ( AAH24590.1, 1 a.a. - 710 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Molecular Mass: 103.84 kDa
• Protein Length: 710 amino acids
• AA Sequence: MEALIPVINKLQDVFNTVGADIIQL PQIVVVGTQSSGKSSVLESLVGRDL LPRGTGIVTRRPLILQLVHVSQEDK RKTTGEENGVEAEEWGKFLHTKNKL YTDFDEIRQEIENETERISGNNKGV SPEPIHLKIFSPNVVNLTLVDLPGM TKVPVGDQPKDIELQIRELILRFIS NPNSIILAVTAANTDMATSEALKIS REVDPDGRRTLAVITKLDLMDAGTD AMDVLMGRVIPVKLGIIGVVNRSQL DINNKKSVTDSIRDEYAFLQKKYPS LANRNGTKYLARTLNRLLMHHIRDC LPELKTRINVLAAQYQSLLNSYGEP VDDKSATLLQLITKFATEYCNTIEG TAKYIETSELCGGARICYIFHETFG RTLESVDPLGGLNTIDILTAIRNAT GPRPALFVPEVSFELLVKRQIKRLE EPSLRCVELVHEEMQRIIQHCSNYS TQELLRFPKLHDAIVEVVTCLLRKR LPVTNEMVHNLVAIELAYINTKHPD FADACGLMNNNIEEQRRNRLARELP SAVSRDKLIQDSRRETKNVASGGGG VGDGVQEPTTGNWRGMLKTSKAEEL LAEEKSKPIPIMPASPQKGHAVNLL DVPVPVARKLSAREQRDCEVIERLI KSYFLIVRKNIQDSVPKAVMHFLVN HVKDTLQSELVGQLYKSSLLDDLLT ESEDMAQRRKEAADMLKALQGASQI IAEIRETHLW
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: DNM1L dynamin 1-like [ Homo sapiens ]
• Official Symbol: DNM1L
• Synonyms: DNM1L; dynamin 1-like; dynamin-1-like protein; DRP1; DVLP; DYMPLE; HDYNIV; VPS1; dynamin-like protein 4; dynamin-like protein IV; Dnm1p/Vps1p-like protein; dynamin-related protein 1; dynamin family member proline-rich carboxyl-terminal domain less; DLP1; EMPF; DYNIV-11; FLJ41912
• Gene ID: 10059
• mRNA Refseq: NM_005690
• Protein Refseq: NP_005681
• MIM: 603850
• UniProt ID: O00429

Reviews

12/10/2020

Increase yield and purity and improve production efficiency in biotechnology production.

10/22/2019

Good fluorescence labeling performance in light microscopy technology, which is helpful for cell imaging studies.

06/18/2019

In vaccine research, it has been found that it can induce immune protective effect and has potential for disease prevention.

Q&As

Does a mutation in the DNM1L gene cause a genetic predisposition?

A mutation in the DNM1L gene may have a genetic predisposition, meaning that the mutation is more likely to occur in a patient's family member.

What is the relationship between DNM1L and neuronal connectivity and synaptic function?

DNM1L is involved in the regulation of neuronal connections and synaptic function, especially in the endocytosis and release process of synaptic vesicles, thereby affecting the transmission of neural signals.

What is the inheritance pattern of DNM1L gene mutations?

DNM1L gene mutations can be transmitted in different genetic ways such as autosomal dominant, dominant negative, and dominant homosexual, depending on the type and location of the mutation.

Which diseases are DNM1L gene mutations associated with?

DNM1L gene mutations are associated with a number of neurological-related diseases, including Charcot-Marie-Tooth disease, multiple system atrophy, intellectual disability, and movement disorders.

What is the relationship between DNM1L gene mutations and neurodegenerative diseases?

Mutations in the DNM1L gene may be associated with neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease and Huntington's disease.

How to assess the impact of DNM1L gene mutations on disease prognosis?

Through long-term follow-up and clinical data analysis of patients, the impact of DNM1L gene mutations on disease prognosis, such as age of onset, disease progression and quality of life, can be evaluated.