FHL1 gene

four and a half LIM domains 1

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

From NCBI Gene:

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

From UniProt:

May have an involvement in muscle development or hypertrophy.

From NCBI Gene:

  • Scapuloperoneal myopathy, X-linked dominant
  • Myopathy, reducing body, X-linked, childhood-onset
  • Myopathy with postural muscle atrophy, X-linked
  • Myopathy, reducing body, X-linked, early-onset, severe

From UniProt:

Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A): A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. [MIM:300717]

Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B): A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. [MIM:300718]

Scapuloperoneal myopathy, X-linked dominant (SPM): A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. [MIM:300695]

Myopathy, X-linked, with postural muscle atrophy (XMPMA): A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. [MIM:300696]

Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6): A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. [MIM:300696]

Cytogenetic Location: Xq26, which is the long (q) arm of the X chromosome at position 26

Molecular Location: base pairs 136,146,702 to 136,211,359 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26, which is the long (q) arm of the X chromosome at position 26
  • FHL-1
  • FHL1A
  • FHL1B
  • FLH1A
  • KYOT
  • RBMX1A
  • RBMX1B
  • SLIM
  • SLIM-1
  • SLIM1
  • SLIMMER
  • XMPMA