Prab: CSV import

2025-02-16T05:14:36Z

CSV import

← Older revision		Revision as of 05:14, 16 February 2025
Line 1:		Line 1:
	'''Hephaestin''' is a [[protein]] that in ~~humans is encoded by~~ the ~~'''HEPH'''~~ [[~~gene~~]]. It is ~~named after~~ [[~~Hephaestus~~]], the ~~Greek god~~ of ~~metalworking~~, ~~due to~~ its ~~role~~ in ~~iron metabolism~~.		== Hephaestin ==

			[[File:TEST_Hephaestin_illustration.png\|thumb\|right\|Illustration of Hephaestin]]

			'''Hephaestin''' is a [[protein]] that plays a crucial role in the [[metabolism]] of [[iron]] within the human body. It is primarily involved in the process of iron transport across the [[intestinal epithelium]], facilitating the conversion of iron from its ferrous (Fe__) to ferric (Fe__) state, which is essential for its incorporation into [[transferrin]], the main iron transport protein in the blood.

	== Function ==		== Function ==
	Hephaestin is a multi-copper oxidase that is involved in the [[iron metabolism\|metabolism of iron]]. It is similar to [[ceruloplasmin]], a protein that carries more than 95% of the total circulating copper in healthy human plasma. Hephaestin is believed to oxidize Fe2+ (ferrous) iron to Fe3+ (ferric), the form of iron that can bind to [[transferrin]] for transport to other cells. It is located on the basolateral surface of intestinal [[enterocyte]]s and is likely involved in the transfer of iron from enterocytes to plasma.

	== ~~Clinical significance~~ ==		Hephaestin is a [[ferroxidase]], an enzyme that catalyzes the oxidation of iron. It is homologous to [[ceruloplasmin]], another copper-containing ferroxidase, and is encoded by the ''HEPH'' gene located on the [[X chromosome]]. Hephaestin is predominantly expressed in the [[duodenum]], the first section of the [[small intestine]], where it facilitates the export of iron from [[enterocytes]] into the bloodstream.
	~~Mutations~~ in the ~~HEPH gene are associated with systemic~~ iron ~~overload, as seen in conditions such as~~ [[~~hemochromatosis~~]]. ~~In mice~~, ~~a mutation~~ in this ~~gene results in~~ the ~~phenotype known as "sex-linked anemia~~,~~" which leads~~ to ~~significant~~ iron deficiency ~~due to impaired iron export from enterocytes~~.
			== Mechanism of Action ==

			Hephaestin works in conjunction with the iron exporter [[ferroportin]] to mediate the transfer of iron from the enterocytes to the plasma. Once iron is absorbed from the diet, it is stored temporarily in the enterocytes in its ferrous form. Hephaestin oxidizes this iron to the ferric form, enabling its binding to transferrin. This process is critical for maintaining systemic iron homeostasis and preventing iron deficiency or overload.

	== ~~Structure~~ ==		== Clinical Significance ==
	~~The HEPH gene~~ is ~~located on~~ the ~~X chromosome and spans approximately 120 kilobases~~. ~~The protein product~~, hephaestin, is a ~~transmembrane~~ protein ~~with six~~ copper-~~binding sites, similar to~~ other ~~multi~~-~~copper oxidases~~.
			Mutations or deficiencies in hephaestin can lead to disorders of iron metabolism. For instance, a lack of functional hephaestin can result in [[iron deficiency anemia]], as the body is unable to efficiently transport iron into the bloodstream. Conversely, dysregulation of hephaestin activity may contribute to conditions of iron overload, such as [[hemochromatosis]].

			== Related Proteins ==

			Hephaestin is part of a family of multicopper oxidases, which includes ceruloplasmin and [[hephaestin-like protein 1]] (HEPHL1). These proteins share structural similarities and are involved in various copper-dependent enzymatic processes.

			== Research and Developments ==

			Ongoing research is focused on understanding the precise molecular mechanisms of hephaestin and its interactions with other proteins involved in iron metabolism. Studies are also exploring potential therapeutic targets for treating iron-related disorders by modulating hephaestin activity.

			== Related Pages ==

	~~== See also ==~~
	* [[Iron metabolism]]		* [[Iron metabolism]]
			* [[Ferroportin]]
	* [[Ceruloplasmin]]		* [[Ceruloplasmin]]
	* [[Transferrin]]		* [[Transferrin]]
	* [[~~Enterocyte~~]]		* [[Iron deficiency anemia]]
	* [[Hemochromatosis]]		* [[Hemochromatosis]]

	~~== References ==~~
	~~<references />~~

	[[Category:Proteins]]		[[Category:Proteins]]
	~~[[Category:Genes]]~~
	[[Category:Iron metabolism]]		[[Category:Iron metabolism]]
	[[Category:~~Medical genetics~~]]		[[Category:Enzymes]]
	~~{{medicine-stub}}~~

Prab: CSV import

2024-03-10T12:27:15Z

CSV import

New page

'''Hephaestin''' is a [[protein]] that in humans is encoded by the '''HEPH''' [[gene]]. It is named after [[Hephaestus]], the Greek god of metalworking, due to its role in iron metabolism.

== Function ==
Hephaestin is a multi-copper oxidase that is involved in the [[iron metabolism|metabolism of iron]]. It is similar to [[ceruloplasmin]], a protein that carries more than 95% of the total circulating copper in healthy human plasma. Hephaestin is believed to oxidize Fe2+ (ferrous) iron to Fe3+ (ferric), the form of iron that can bind to [[transferrin]] for transport to other cells. It is located on the basolateral surface of intestinal [[enterocyte]]s and is likely involved in the transfer of iron from enterocytes to plasma.

== Clinical significance ==
Mutations in the HEPH gene are associated with systemic iron overload, as seen in conditions such as [[hemochromatosis]]. In mice, a mutation in this gene results in the phenotype known as "sex-linked anemia," which leads to significant iron deficiency due to impaired iron export from enterocytes.

== Structure ==
The HEPH gene is located on the X chromosome and spans approximately 120 kilobases. The protein product, hephaestin, is a transmembrane protein with six copper-binding sites, similar to other multi-copper oxidases.

== See also ==
* [[Iron metabolism]]
* [[Ceruloplasmin]]
* [[Transferrin]]
* [[Enterocyte]]
* [[Hemochromatosis]]

== References ==
<references />

[[Category:Proteins]]
[[Category:Genes]]
[[Category:Iron metabolism]]
[[Category:Medical genetics]]
{{medicine-stub}}

Hephaestin - Revision history

Prab: CSV import

Prab: CSV import