HIPK1 Polyclonal Antibody, 50ul[BT-AP09894] Antisense Oligonucleotides This locus represents a pseudoautosomal

This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature| and it is implicated in the short stature phenotype of Turner syndrome patients

It is a cytoplasmic protein in normal fibroblasts (PMID: 19464300)

This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members

Mutations in COL17A1 are associated with both generalized atrophic benign and junctional epidermolysis bullosa

HIPK1 Polyclonal Antibody, 50ul[BT-AP09894] Antisense Oligonucleotides This locus represents a pseudoautosomalThe protein encoded by this gene belongs to the Ser Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms.