Product Overview
Description
CLPP-00150056 is recombinant CEP85L protein
Applications
Antibody Competition
Nature
Recombinant Protein
Sequence
SKLRESLTPDGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLTAPDNCGQGGTVCREESRNGLEK
Predicted Molecular Weight
26 kDa
Target Information
Alternative Names
bA57K17.2; C6orf204; centrosomal protein 85kDa-like; CEP85L; chromosome 6 open reading frame 204; NY-BR-15; RP11-57K17.2; serologically defined breast cancer antigen NY-BR-15
Protein Function
Plays an essential role in neuronal cell migration.
Involvement in Disease
A chromosomal aberration involving CEP85L is found in a patient with T-lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm (MPN) with eosinophilia. Translocation t(5;6)(q33-34;q23) with PDGFRB. The translocation fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB; Lissencephaly 10 (LIS10): A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. 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.
