Restriction digests of the clone give the following sizes (kb): EcoRI/HindIII--3.0, 0.75; BglI--3.2, 0.55; EcoRI--3.7; PstI--2.1, 1.6; SacI--3.7. The insert contains the following restriction sites (approximate kb from the 5' end): PstI--0.09; BglI--0.32. The gene appears to be located entirely within the Charcot-Marie-Tooth disease (CMT1A) duplication. Detects genomic restriction fragments of the following sizes (kb): human, HindIII--7.4, 2.5; mouse, HindIII--5.1, 2.1; hamster, HindIII--7.5, 2.8; human, EcoRI--11, 7.9. Corresponds to nt 147-820 of the published sequence, and contains the complete coding region (nt 50-529 of the published sequence). Detects transcripts of 1.8, 1.3, and 0.8 kb. |