Recombinant Human Uncharacterized protein C21orf2 (C21orf2) | CSB-EP003758HU

Recombinant Human Uncharacterized protein C21orf2 (C21orf2) | CSB-EP003758HU | Cusabio

Alternative Name(s): C21orf-HUMF09G8.5 Leucine-rich repeat-containing protein 76 YF5/A2

Gene Names: C21orf2

Research Areas: Cell Biology

Organism: Homo sapiens (Human)

AA Sequence: MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE

Source: E.coli

Tag Info: Tag-Free

Expression Region: 1-375aa

Sequence Info: Full Length

MW: 40.4 kDa

Purity: Greater than 85% as determined by SDS-PAGE.

Relevance: May play a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization

Reference: "Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis." Scott H.S., Kyriakou D.S., Peterson P., Heino M., Tahtinen M., Krohn K., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E. Genomics 47:64-70(1998)

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: Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization

Involvement in disease: Retinal dystrophy with or without macular staphyloma (RDMS); Spondylometaphyseal dysplasia, axial (SMDAX)

Subcellular Location: Mitochondrion, Cytoplasm, cytoskeleton, cilium basal body, Cell projection, cilium, photoreceptor outer segment, Cytoplasm

Protein Families:

Tissue Specificity: Widely expressed (PubMed:26974433, PubMed:9325172). Expressed in the retina (PubMed:26294103).

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: O43822

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM