FXYD4 - FXYD domain containing ion transport regulator 4 Gene
Also Known as CHIF
Species: Homo sapiens
About FXYD4
This gene has 4 transcripts (splice variants), 79 orthologues and 6 paralogues. Restricted expression toward kidney (RPKM 55.0).
Summary
This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved Amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
FXYD4 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001184963.1 | NP_001171892.1 | FXYD domain-containing ion transport regulator 4 precursor |
| NM_173160.3 | NP_775183.1 | FXYD domain-containing ion transport regulator 4 precursor |
FXYD4 Protein Structure
ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (26 - 72)
- 0
- 89 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
FXYD domain-containing ion transport regulator 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 33 |
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| Hypomagnesemia 2, Renal |
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