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. [provided by RefSeq, Aug 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OFD1-20-RE | 20 (40 μL) | 200 μL |  |
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| OFD1-20-OR | 20 (40 μL) | 200 μL |  |
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| OFD1-20-GO | 20 (40 μL) | 200 μL |  |
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| OFD1-20-GR | 20 (40 μL) | 200 μL |  |
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| OFD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Aug 2016]
Gene Symbol : OFD1
Gene Name : OFD1, centriole and centriolar satellite protein
Chromosome : CHR X: 137,347,12-137,693,60
Locus : Xp22.2
Alt. Genes : LRPPRC
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