QuickView for haptoglobin (gene)

Gene Symbol:

HP Homo sapiens

Full name:

haptoglobin

Synonyms:

BP, HP2ALPHA2, HPA1S, haptoglobin, binding peptide, haptoglobin alpha(1S)-beta, haptoglobin alpha(2FS)-beta, haptoglobin, alpha polypeptide, haptoglobin, beta polypeptide, zonulin

Genomic Location:

Chr 16: 70646009-70652458

Description:

This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and pr...

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This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Canis lupus familiaris ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGACCTY_ERR1_Q2 ,  OSF2_Q6

Cytogenetic Map:

16q22.2

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