Ontology highlight
ABSTRACT:
SUBMITTER: Nascimento RM
PROVIDER: S-EPMC1559544 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
Nascimento Rafaella M P RM Otto Paulo A PA de Brouwer Arjan P M AP Vianna-Morgante Angela M AM
American journal of human genetics 20060703 3
We report a mutation of UBE2A/HR6A, which encodes a ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel X-linked mental retardation (XLMR) syndrome that affects three males in a two-generation family. A single-nucleotide substitution, c.382C-->T in UBE2A, led to a premature UAG stop codon (Q128X). As a consequence, the predicted polypeptide lacks the 25 C-terminal amino acid residues. The importance of this terminal sequence for UBE2 function ...[more]