Alternative Name(s):

(FMR1 autosomal homolog 1)(hFXR1p)

Species: (Organism)

Homo sapiens (Human)

Gene Names:

FXR1

Tag info:

C-terminal 6xHis-tagged

Target Protein AA Sequence:

KNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYL

Expression Region:

123-358aa

Subcellular Location:

Tissue Specificity:

Protein Length:

Partial

Pathway:

Mol. Weight:

27.4 kDa

Purity:

Greater than 85% as determined by SDS-PAGE.

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.

Research Areas:

Epigenetics and Nuclear Signaling

Function:

Involvement in disease:

Relevance:

RNA-binding protein required for embryonic and postnatal development of muscle tissue . May regulate intracellular transport and local translation of certain mRNAs .

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.

Protein Families:

Reference:

"Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy." Estan M.C., Fernandez-Nunez E., Zaki M.S., Esteban M.I., Donkervoort S., Hawkins C., Caparros-Martin J.A., Saade D., Hu Y., Bolduc V., Chao K.R., Nevado J., Lamuedra A., Largo R., Herrero-Beaumont G., Regadera J., Hernandez-Chico C., Tizzano E.F. Ruiz-Perez V.L. Nat. Commun. 10:797-797(2019)