background:
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
Function:
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.
Subcellular Location:
Membrane.
Tissue Specificity:
Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.
DISEASE:
Defects in NIPAL4 are the cause of ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]. ARCII is a disorder of keratinization with abnormal differentiation and desquamation of the epidermis. The phenotype usually presents as non-bullous congenital ichthyosiform erythroderma (NCIE) with fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Some of the families may show a more lamellar phenotype (lamellar ichthyosis).
Similarity:
Belongs to the NIPA family.
Database links:
Entrez Gene: 348938 Human
Entrez Gene: 214112 Mouse
Omim: 609383 Human
SwissProt: Q0D2K0 Human
SwissProt: Q8BZF2 Mouse
Unigene: 4285 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
