Domain

Barttin domain (IPR029181)

Short name: Barttin_dom

Domain relationships

None.

Description

This entry represents a domain found in Barttin.

Barttin is a beta-subunit for ClC-Ka and ClC-Kb chloride channels, with which it co-localises in basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear [PMID: 11734858, PMID: 12111250]. Mutations in Barttin gene cause Bartter syndrome 4A (BS4A), which is an autosomal recessive disorder characterised by impaired salt re-absorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.

GO terms

Biological Process

GO:0006821 chloride transport

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam