Recombinant CEP120 Protein

Cat. No.: CLPP-00150024

Product Size: 100 µg Custom size

Product Overview

Description
CLPP-00150024 is recombinant CEP120 protein
Purity
> 80%
Applications
Antibody Competition
Nature
Recombinant Protein
Sequence
SKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEIDRKALHQHRLQRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYTKFKSEIQISIALETDTKPPVD
Predicted Molecular Weight
34 kDa

Target Information

Protein Name
CEP120
UniProt No.
Alternative Names
CCDC100; centrosomal protein 120kDa; centrosomal protein of 120 kDa; coiled-coil domain containing 100; coiled-coil domain-containing protein 100; DKFZp686I06246; FLJ36090
Protein Function
Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner.
Involvement in Disease
Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13): A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. The disease is caused by variants affecting the gene represented in this entry. Joubert syndrome 31 (JBTS31): A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Shipping & Handling

Constituents
PBS and 1M Urea, pH 7.4.
Shipping
Shipped on dry ice.
Storage
Store at -20 °C.

For Research Use Only. Not For Clinical Use.

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