IMPDH1 Antibody – Rabbit Polyclonal

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

IMPDH1: Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP10 inheritance is autosomal dominant. Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11). LCA11 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the IMPDH/GMPR family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - purine; EC 1.1.1.205

Chromosomal Location of Human Ortholog: 7q31.3-q32

Cellular Component: cell junction; cytoplasm; cytosol; nucleoplasm; nucleus

Molecular Function: DNA binding; IMP dehydrogenase activity; metal ion binding; nucleic acid binding; RNA binding

Biological Process: GMP biosynthetic process; lymphocyte proliferation; nucleobase, nucleoside and nucleotide metabolic process; purine base metabolic process; purine ribonucleoside monophosphate biosynthetic process; response to cold; retina development in camera-type eye

Disease: Leber Congenital Amaurosis 11; Retinitis Pigmentosa 10