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X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. We isolated the full-length AS6 cDNA, determined its genomic organization, and sought for abnormalities in HPT patients. AS6 was identified as the 3' UTR of ATP11C, a novel member of the P-type ATPases, which consists of 31 exons with alternative transcripts. The colocalization of ATP11C with SOX3 and MCF2/DBL on Xq27 mirrors that of ATP11A with SOX1 and MCF2L on 13q34 and ATP11B with SOX2 on 3q26. These colocalizations are evolutionarily conserved in mouse, and analyses indicate that SOX2 divergence likely occurred before the separation of SOX1 and SOX3. Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism.

Original publication




Journal article



Publication Date





1060 - 1070


3' Untranslated Regions, Adenosine Triphosphatases, Amino Acid Sequence, Biological Evolution, Chromosome Mapping, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 3, Chromosomes, Human, X, Conserved Sequence, DNA-Binding Proteins, Female, Genetic Linkage, Guanine Nucleotide Exchange Factors, High Mobility Group Proteins, Humans, Hypoparathyroidism, Male, Membrane Transport Proteins, Molecular Sequence Data, Mutation, Pedigree, Proto-Oncogene Proteins, Retroviridae Proteins, Oncogenic, Ribonucleoproteins, Small Nuclear, SOXB1 Transcription Factors, Sequence Homology, Amino Acid, Transcription Factors