Recombinant Human Transmembrane protein 65 (TMEM65), partial | CSB-CF023869HU

Recombinant Human Transmembrane protein 65 (TMEM65), partial | CSB-CF023869HU | Cusabio

Alternative Name(s): TMEM65; TMM65_HUMAN; Transmembrane protein 65

Gene Names: TMEM65

Research Areas: Cell Biology

Organism: Homo sapiens (Human)

AA Sequence: MEALNTAQGARDFIYSLHSTERSCLLKELHRFESIAIAQEKLEAPPPTPGQLRYVFIHNAIPFIGFGFLDNAIMIVAGTHIEMSIGIILGISTMAAAALGNLVSDLAGLGLAGYVEALASRLGLSIPDLTPKQVDMWQTRLSTHLGKAVGVTIGCILGMFPLIFFGGGEEDEKLETKS

Source: in vitro E.coli expression system

Tag Info: N-terminal 6xHis-SUMO-tagged

Expression Region: 63-240aa

Sequence Info: Partial

MW: 35.1 kDa

Purity: Greater than 90% as determined by SDS-PAGE.

Relevance: Plays an important role in cardiac development and function. Regulates cardiac conduction and the function of the gap junction protein GJA1. Contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication.

Reference: "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."The MGC Project Team Genome Res. 14:2121-2127(2004)

Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

Function: May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance

Involvement in disease: Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037).

Subcellular Location: Cell membrane, Multi-pass membrane protein, Mitochondrion inner membrane, Multi-pass membrane protein

Protein Families:

Tissue Specificity: Predominantly expressed the ventricular tissue (at protein level).

Paythway:

Form: Liquid or Lyophilized powder

Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Uniprot ID: Q6PI78

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM