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Human NKAIN2 wild-type allele is located in the vicinity of 6q21 and is approximately 1022 kb in length. This allele, which encodes sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2, may be involved in the modulation of ion transport. Chromosomal rearrangements affecting the gene may be associated with epileptic encephalopathy with spastic tetraparesis and severe psychomotor retardation associated with cerebral atrophy, developmental delay with recurrent infections or lymphoma.
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