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OFD1
Official Full Name
oral-facial-digital syndrome 1 gene homolog (human)
Background
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.
Synonyms
OFD1; oral-facial-digital syndrome 1; CXorf5; oral-facial-digital syndrome 1 protein; 71 7A; JBTS10; 717A; OFD1_HUMAN; oral facial digital syndrome 1; OTTHUMP00000022941; Protein 71-7A; SGBS2; 71-7A