McKusick Kaufman Syndrome Protein (MKKS)

MKKS may have a role in protein processing in limb, cardiac and reproductive system development. The Old Order Amish patient was found to be homozygous for an allele that had 2 missense substitutions, and the non-Amish patient was compound heterozygous for a frameshift mutation predicting premature protein truncation and a distinct missense mutation. The MKKS transcript has a predicted open reading frame of 570 amino acids Northern blot analysis revealed broad expression of a 2.4-kb transcript in human adult and fetal tissues. The MKKS predicted protein showed amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development. Its closest protein relative is the alpha subunit of the Thermoplasma acidophilum thermosome.