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Zinc finger protein 630
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. [provided by RefSeq, Jul 2010] (from
de Brouwer et al., Nijmegen, Netherlands. In Am J Med Genet A, 2010
Detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications.