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The official name of this gene is “NIPA-like domain containing 4.”
NIPAL4 is the gene's official symbol. The NIPAL4 gene is also known by other names, listed below.
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
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.
|||612281 (http://omim.org/entry/612281)||ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6|
|609383 (http://omim.org/entry/609383)||NIPA-LIKE DOMAIN-CONTAINING 4|
Cytogenetic Location: 5q33.3
Molecular Location on chromosome 5: base pairs 157,460,018 to 157,474,721
The NIPAL4 gene is located on the long (q) arm of chromosome 5 at position 33.3.
More precisely, the NIPAL4 gene is located from base pair 157,460,018 to base pair 157,474,721 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about NIPAL4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal recessive ; congenital ; differentiation ; epidermis ; erythroderma ; gene ; ichthyosiform ; ichthyosis ; receptor ; recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.