Anti-OFD1 monoclonal antibody Made to order

Antibody Isotype

IgG

Species Reactivity

Human

Immunogen

A synthetic peptide of human OFD1 is used for rabbit immunization.

Conjugate

Alternative Names

OFD1; oral-facial-digital syndrome 1; CXorf5; oral-facial-digital syndrome 1 protein; 71 7A; JBTS10; protein 71-7A; 71-7A; SGBS2; MGC117039; MGC117040;

Entrez Gene ID

UniProt ID

Antigen Description

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined.

Pathway

Cell Cycle, organism-specific biosystem; Cell Cycle, Mitotic, organism-specific biosystem; Centrosome maturation, organism-specific biosystem; G2/M Transition, organism-specific biosystem; Loss of Nlp from mitotic centrosomes, organism-specific biosystem; Loss of proteins required for interphase microtubule organization??from the centrosome, organism-specific biosystem; Mitotic G2-G2/M phases, organism-specific biosystem;