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HPMR

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hemoglobin, alpha 1 OKDB#: 4892
 Symbols: HBA1 Species: human
 Synonyms: HBH, CD31,  Locus: 16p13.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]
General function
Comment
Cellular localization Secreted
Comment
Ovarian function
Comment Comparison of HbA1c levels in obese and non-obese polycystic ovarian patients. Unluer AN et al. To compare obese and non-obese polycystic ovary syndrome (PCOS) patients with respect to lipid profile, hormone profiles, and hemoglobin A1c (HbA1c) values indicating chronic hyperglicemia.
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: June 5, 2013, 10:23 a.m. by: hsueh   email:
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last update: June 5, 2013, 10:24 a.m. by: hsueh    email:



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