IMPDH1 gene

inosine monophosphate dehydrogenase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 10
  • Leber congenital amaurosis 11

From UniProt:

Retinitis pigmentosa 10 (RP10): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. [MIM:180105]

Leber congenital amaurosis 11 (LCA11): 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. [MIM:613837]

Cytogenetic Location: 7q32.1, which is the long (q) arm of chromosome 7 at position 32.1

Molecular Location: base pairs 128,392,277 to 128,409,988 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q32.1, which is the long (q) arm of chromosome 7 at position 32.1
  • IMPD
  • IMPD1
  • IMPDH-I
  • LCA11
  • RP10
  • sWSS2608