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The protein encoded by this gene is an integral membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin.
A study of 3,011 unrelated white Australians found that 14% were heterozygous carriers of an HFE mutation, 0.5% were homozygous for an HFE mutation, and only 0.25% of the study population had clinically relevant iron overload. Most patients who are homozygous for HFE mutations do not manifest clinically relevant haemochromatosis (see Genetics ...
This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the ...
Majority of the cases of hemochromatosis are caused by mutations in the HFE (Homeostatic Iron Regulator) gene. [17] Type 3 HH is characterized by compound heterozygote mutations in both transferrin receptor 2 (TFR2) and HFE, i.e. a single mutation in each gene. HFE is located on chromosome 6 and TFR2 is located on chromosome 7.
Dau Tieng helipads, 23 September 1967 Air controllers of the 2nd Battalion, 28th Infantry calling in aircraft to lift troops for redeployment, 18 February 1970. The base was established in October 1966.
Chữ khoa đẩu is a term claimed by the Vietnamese pseudohistorian Đỗ Văn Xuyền to be an ancient, pre-Sinitic script for the Vietnamese language.Đỗ Văn Xuyền's works supposedly shows the script have been in use during the Hồng Bàng period, and it is believed to have disappeared later during the Chinese domination of Vietnam.
7036 50765 Ensembl ENSG00000106327 ENSMUSG00000029716 UniProt Q9UP52 Q9JKX3 RefSeq (mRNA) NM_001206855 NM_003227 NM_001289507 NM_001289509 NM_001289511 NM_015799 NM_001359206 RefSeq (protein) NP_001193784 NP_003218 NP_001276436 NP_001276438 NP_001276440 NP_056614 NP_001346135 Location (UCSC) Chr 7: 100.62 – 100.64 Mb Chr 5: 137.57 – 137.59 Mb PubMed search Wikidata View/Edit Human View ...
The prevalence of the 1298C mutation is lower, at 4-12% for most tested populations. [9] A study in 2000 had identified only 24 cases of severe MTHFR deficiency (from nonsense mutations) across the whole world. [3]