background:
This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009].
Function:
This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrom congenital heart disease.
Subunit:
Interacts with ASNA1/TRC40.
Subcellular Location:
Nucleus. Membrane; Multi-pass membrane protein
Similarity:
Belongs to the WRB/GET1 family.
Database links:
Entrez Gene: 26038 Human
Entrez Gene: 269610 Mouse
Entrez Gene: 691589 Rat
Omim: 610771 Human
SwissProt: Q8TDI0 Human
Unigene: 522898 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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