Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
This antibody recognize all the isoforms of OFD1. The 43 kDa is isoform 2. The ~80 kDa band is unknown.
Immunogen sequence: MMAQSNMFT VADVLSQDEL RKKLYQTFKD RGILDTLKTQ LRNQLIHELM HPVLSGELQP RSISVEGSSL LIGASNSLVA DHLQRCGYEY SLSVFFPESG LAKEKVFTMQ DLLQLIKINP TSSLYKSLVS GSDKENQKGF LMHFLKELAE YHQAKESCNM ETQTSSTFNR DSLAEKLQLI DDQFADAYPQ RIKFESLEIK LNEYKREIEE QLRAEMCQKL KFFKDTEIAK IKMEAKKKYE KELTMFQNDF EKACQAKSEA LVLREKSTLE RIHKHQEIET KEIYAQRQLL LKDMDLLRGR EAELKQ (1-305 aa encoded by B C096344)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Centriole and centriolar satellite protein OFD1; Oral-facial-digital syndrome 1 protein; Protein 71-7A
Gene Aliases: 71-7A; CXorf5; JBTS10; OFD1; RP23; SGBS2
UniProt ID: (Human) O75665
Entrez Gene ID: (Human) 8481
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