1jqf

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Template:STRUCTURE 1jqf

Contents 1 Human Transferrin N-Lobe Mutant H249Q 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

Human Transferrin N-Lobe Mutant H249Q

Template:ABSTRACT PUBMED 11570867

Disease

[TRFE_HUMAN] Defects in TF are the cause of atransferrinemia (ATRAF) [MIM:209300]. Atransferrinemia is rare autosomal recessive disorder characterized by iron overload and hypochromic anemia.^[1][2]

Function

[TRFE_HUMAN] Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

About this Structure

1jqf is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Transferrin

Reference

• Baker HM, Mason AB, He QY, MacGillivray RT, Baker EN. Ligand variation in the transferrin family: the crystal structure of the H249Q mutant of the human transferrin N-lobe as a model for iron binding in insect transferrins. Biochemistry. 2001 Oct 2;40(39):11670-5. PMID:11570867

1. ↑ Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF. Molecular characterization of a case of atransferrinemia. Blood. 2000 Dec 15;96(13):4071-4. PMID:11110675
2. ↑ Knisely AS, Gelbart T, Beutler E. Molecular characterization of a third case of human atransferrinemia. Blood. 2004 Oct 15;104(8):2607. PMID:15466165 doi:10.1182/blood-2004-05-1751