oral-facial-digital syndrome 1 protein (protein 71-7A, OFD1, CXorf5)

Function

• unknown
• differentiation of metanephric precursor cells (putative)

Structure

• contains 1 LisH domain

Compartment

cytoplasm, centrosome

Alternative splicing

named isoforms=2

Expression

• widely expressed
• expressed in 9 & 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal & cranial cartilage, & brain
• expressed in metanephros, brain, tongue, & limb

Pathology

• defects in OFD1 are a cause of oral-facial-digital syndrome

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/300170
• OMIM: https://mirror.omim.org/entry/311200
• UniProt: http://www.uniprot.org/uniprot/O75665.html