AC T01886
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ID T01886
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DT 09.08.1996 (created); ewi.
DT 12.08.2015 (updated); sup.
CO Copyright (C), QIAGEN.
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FA Brn-4
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SY Brain-4; Brn-4; Brn4; RHS2 (rat); XLPOU (X. laevis).
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G009784 POU3F4; HGNC: POU3F4.
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CL C0007; POU; 3.1.10.3.4.
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FF mutations within the BRN4 gene (substitutions and deletions due to premature stop codons) are responsible for X-linked mixed deafness, DFN3 [1];
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MX M01473 V$BRN4_01.
MX M00795 V$OCT_Q6.
MX M04083 V$POU3F4_02.
MX M04084 V$POU3F4_03.
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DR TRANSPATH: MO000046070.
DR UniProtKB: P49335; BRN4_HUMAN.
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RN [1]; RE0004415.
RX PUBMED: 7839145.
RA de Kok Y. J. M., van der Maarel S. M., Bitner-Glindzicz M., Huber I., Monaco A. P., Malcolm S., Pembrey M. E., Ropers H.-H., Cremers F. P. M.
RT Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
RL Science 267:685-688 (1995).
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