KY gene

kyphoscoliosis peptidase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]

From UniProt:

Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC.

From NCBI Gene:

  • MYOPATHY, MYOFIBRILLAR, 7

From UniProt:

Myopathy, myofibrillar, 7 (MFM7): A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. [MIM:617114]

Cytogenetic Location: 3q22.2, which is the long (q) arm of chromosome 3 at position 22.2

Molecular Location: base pairs 134,599,923 to 134,656,053 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q22.2, which is the long (q) arm of chromosome 3 at position 22.2