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Rabbit Anti-ZNF141 antibody
A zinc finger encoding cDNA (ZNF141) of the C2-H2/KRAB subfamily has been mapped to the 4p- (Wolf-Hirschhorn) syndrome (WHS) chromosome region. Zinc finger encoding genes would be good candidates for being involved in the multiple developmental defects associated with chromosomal aneusomy--because of their role as transcriptional regulators, their abundance in the genome and their known association with specific developmental disorders.
Function:
May be involved in transcriptional regulation as a repressor. Plays a role in limb development.
Subcellular Location:
Nuclear.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal.
Similarity:
Belongs to the krueppel C2H2-type zinc-finger protein family.
Contains 11 C2H2-type zinc fingers.
Contains 1 KRAB domain.
SWISS:
Q15928
Gene ID:
7700
Database links:
Entrez Gene: 7700 Human
Omim: 194648 Human
SwissProt: Q15928 Human
Unigene: 654355 Human
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