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Human HNRNPH2 wild-type allele is located in the vicinity of Xq22.1 and is approximately 6 kb in length. This allele, which encodes heterogeneous nuclear ribonucleoprotein H2, plays a role in the maturation of messenger RNA. Mutation of the gene is associated with the Bain type of X-linked syndromic mental retardation and may be associated with Fabray disease and X-linked agammaglobulinemia.
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