| Entrez Gene ID |
3614 |
| Official Gene Symbol |
IMPDH1 (GeneCards) |
| Full name |
inosine monophosphate dehydrogenase 1 |
| Location |
7q32.1 |
| Other ids |
Vega : OTTHUMG00000157713
MIM : 146690
HGNC : HGNC:6052
Ensembl : ENSG00000106348
|
| Other names |
IMPD,
RP10,
IMPD1,
LCA11,
IMPDH-I,
sWSS2608
|
| Summary |
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] |