| CLCN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CLCN4 , CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4, MRX15, MRX49, MRXSRC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 302910 MGI: 104571 HomoloGene: 68207 GeneCards: CLCN4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene. [5] [6]
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. [6]
Mutations in this gene have been linked to cases of early onset epilepsy [7]
The CLCN family of voltage-dependent chloride channel genes comprises nine members which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen).
The CLCN5 gene encodes the chloride channel Cl-/H+ exchanger ClC-5. ClC-5 is mainly expressed in the kidney, in particular in proximal tubules where it participates to the uptake of albumin and low-molecular-weight proteins, which is one of the principal physiological role of proximal tubular cells. Mutations in the CLCN5 gene cause an X-linked recessive nephropathy named Dent disease characterized by excessive urinary loss of low-molecular-weight proteins and of calcium (hypercalciuria), nephrocalcinosis and nephrolithiasis.
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes. This protein encoded by the GPR143 gene, whose variants can lead to Ocular albinism type 1.
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy and Idiopathic generalised epilepsy, although the latter claim has been disputed. CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.
H+/Cl− exchange transporter 3 is a protein that in humans is encoded by the CLCN3 gene.
Chloride channel 7 alpha subunit also known as H+/Cl− exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.
Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.
PHD finger protein 10 is a protein that in humans is encoded by the PHF10 gene.
Chloride transport protein 6 is a protein that in humans is encoded by the CLCN6 gene.
Chloride channel protein ClC-Ka is a protein that in humans is encoded by the CLCNKA gene. Multiple transcript variants encoding different isoforms have been found for this gene.
Golgin-45 is a protein that in humans is encoded by the BLZF1 gene.
Tripartite motif-containing protein 31 is a protein that in humans is encoded by the TRIM31 gene.
Chloride intracellular channel protein 5 is a protein that in humans is encoded by the CLIC5 gene.
Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene on chromosome X.
Cysteine-rich with EGF-like domain protein 2 is a protein that in humans is encoded by the CRELD2 gene.
Programmed cell death protein 7 is a protein that in humans is encoded by the PDCD7 gene.
Dynein light chain 4, axonemal is a protein that in humans is encoded by the DNAL4 gene.
Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.
Anoctamin-1 (ANO1), also known as Transmembrane member 16A (TMEM16A), is a protein that, in humans, is encoded by the ANO1 gene. Anoctamin-1 is a voltage-gated calcium-activated anion channel, which acts as a chloride channel and a bicarbonate channel. additionally Anoctamin-1 is apical iodide channel. It is expressed in smooth muscle, epithelial cells, vomeronasal neurons, olfactory sustentacular cells, and is highly expressed in interstitial cells of Cajal (ICC) throughout the gastrointestinal tract.
tripartite motif containing 45, also known as TRIM45, is a human gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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