KHSRP
Description
The KHSRP (KH-type splicing regulatory protein) is a protein-coding gene located on chromosome 19.
KHSRP is a protein that in humans is encoded by the KHSRP gene.
KHSRP binds to the dendritic targeting element and may play a role in mRNA trafficking. It is part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA and mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. KHSRP may interact with single-stranded DNA from the far-upstream element (FUSE) and activate gene expression. It is also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs.
KHSRP is also known as FBP2, FUBP2, KSRP, p75.
Associated Diseases
- nonpapillary renal cell carcinoma
- familial juvenile hyperuricemic nephropathy type 2
- congenital hydronephrosis
- overhydrated hereditary stomatocytosis
- focal segmental glomerulosclerosis 7
- renal dysplasia
- congenital dyserythropoietic anemia type 4
- cancer
