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See searches and references containing IMPDH1!IMPDH1
Protein-coding gene in the species Homo sapiens
that in humans is encoded by the IMPDH1 gene. IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the
IMPDH1
Class of enzymes
expressed in most tissues, but IMPDH1 is predominately expressed in the spleen, retina, and peripheral blood leukocytes. IMPDH1 is generally expressed constitutively
Inosine-5′-monophosphate dehydrogenase
Inosine-5′-monophosphate_dehydrogenase
Rare inherited eye disease
variants in at least 28 different genes. Variants in three of these genes – IMPDH1, OTX2, and CRX – can cause LCA in an autosomal dominant manner, meaning
Leber_congenital_amaurosis
Gradual retinal degeneration leading to progressive sight loss
608133 PRPH2 Retinitis pigmentosa-7 180104 RP9 Retinitis pigmentosa-9 180105 IMPDH1 Retinitis pigmentosa-10 600138 PRPF31 Inheritance can be either phenotypic
Retinitis_pigmentosa
elasticum ABCC6 recessive 1:25,000 Retinitis pigmentosa RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS
List_of_genetic_disorders
Protein-coding gene in the species Homo sapiens
Saito Y, Sasaki T, et al. (2009). "Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals". Drug Metab. Pharmacokinet
IMPDH2
Protein-coding gene in humans
Humphries P, Birch DG, et al. (2003). "Identification of the RP1 and RP10 (IMPDH1) Genes Causing Autosomal Dominant RP". Retinal Degenerations. Advances in
RP1
P29218 7654 IMPA2 HGNC:6051; O14732 7655 IMPACT HGNC:20387; Q9P2X3 7656 IMPDH1 HGNC:6052; P20839 7657 IMPDH2 HGNC:6053; P12268 7658 IMPG1 HGNC:6055; Q17R60
List of human protein-coding genes 4
List_of_human_protein-coding_genes_4
RPGR Retinitis pigmentosa-1; 180100; RP1 Retinitis pigmentosa-10; 180105; IMPDH1 Retinitis pigmentosa-11; 600138; PRPF31 Retinitis pigmentosa-12, autosomal
List_of_OMIM_disorder_codes
IMPDH1
IMPDH1
IMPDH1
IMPDH1
Girl/Female
Tamil
Labangalata | லபாஂகலதா
A flowering creeper
Boy/Male
Hindu
Treasure, Security, Deposit
Girl/Female
Indian
Lotus
Boy/Male
Arabic, Muslim
Strong; Tough; Robust; Forceful
Boy/Male
Australian, Christian, German, Swedish, Teutonic
Wolf-shield; Noble Wolf; Famous Wolf; Wolf Fame; Form of Randolph
Boy/Male
Biblical
Trembling.
Boy/Male
Muslim
Star
Boy/Male
Indian
Helper of the religion
Male
Hebrew
(× Öµ×¡) Hebrew name NES means "miracle."
Girl/Female
Indian, Marathi
Little Noble
IMPDH1
IMPDH1
IMPDH1
IMPDH1
IMPDH1