protein KIAA1279 (KIAA1279)

Function

• may play a role in both peripheral & central nervous system

Expression

• highly expressed in heart, brain, ovary, testis, spinal cord & all specific brain regions examined
• expressed at intermediate level in all other adult tissues examined, as well as in fetal liver & brain
• not expressed in blood leukocytes

Pathology

• defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome

More general terms

• uncharacterized protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q96EK5.html