Alternative Name(s):

C21orf-HUMF09G8.5 Leucine-rich repeat-containing protein 76 YF5/A2

Species: (Organism)

Homo sapiens (Human)

Gene Names:

C21orf2

Tag info:

Tag-Free

Target Protein AA Sequence:

MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE

Expression Region:

1-375aa

Subcellular Location:

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

Tissue Specificity:

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

Protein Length:

Full Length

Pathway:

Mol. Weight:

40.4 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:

Cell Biology

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)

Relevance:

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

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:

"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)