Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers. Plays a role in embryonic growth, organogenesis and postnatal survival.
Gene References into Functions
novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features PMID: 29410513
We used WES to identify novel compound heterozygous mutations in DPH1 (c.289delG, p.Glu97Lysfs*8 and c.491T>C, p.Leu164Pro) in a patient from a nonconsanguineous family presenting with intellectual disability, a short stature, craniofacial abnormalities, and external genital abnormalities. PMID: 29362492
DPH1 functions as an oncogene in CRC and can be negatively modulated by miR-218-5p to promote CRC tumourigenesis. PMID: 29145210
Results identified a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. PMID: 26220823
Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia. PMID: 24070652
OVCA1 could inhibit the proliferation of ovarian cancer cells by p16/cyclin D1 pathway, but not by NF-kappaB PMID: 21487939
Show More
Hide All
Involvement in disease
Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)
Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors.