KLHL40 gene

kelch like family member 40

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

From NCBI Gene:

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

From UniProt:

Required for skeletal muscle development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Nemaline myopathy 8

From UniProt:

Nemaline myopathy 8 (NEM8): A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. [MIM:615348]

Cytogenetic Location: 3p22.1, which is the short (p) arm of chromosome 3 at position 22.1

Molecular Location: base pairs 42,685,519 to 42,692,446 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p22.1, which is the short (p) arm of chromosome 3 at position 22.1
  • KBTBD5
  • NEM8
  • SRYP
  • SYRP