GENETIC ENCYCLOPEDIA
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gene: RBMX

id27316
symbolRBMX
organismHomo sapiens
full nameRNA binding motif protein X-linked
summaryThis gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]
variant-disease

RBMX, 23-BP DEL, EX9 AND Mental retardation X-linked syndromic 11

NM_002139.4(RBMX):c.782+4A>C AND not specified

NM_002139.4(RBMX):c.891A>G (p.Thr297=) AND not specified

NM_002139.4(RBMX):c.389-8T>C AND Mental retardation X-linked syndromic 11

Single allele AND Chromosome Xq26.3 duplication syndrome

... 170 more


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