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FHL1

FHL1

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

What is the official name of the FHL1 gene?

The official name of this gene is “four and a half LIM domains 1.”

FHL1 is the gene's official symbol. The FHL1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the FHL1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

May have an involvement in muscle development or hypertrophy.

How are changes in the FHL1 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the FHL1 gene's known or predicted involvement in human disease.

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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

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.[2]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Myopathy, reducing body, X-linked, early-onset, severe (RBM): 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.[3]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Myopathy, reducing body, X-linked, childhood-onset (CO-RBM): 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.[4]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the FHL1 gene.
  • Myopathy, reducing body, X-linked, childhood-onset[4]This link leads to a site outside Genetics Home Reference.
  • Myopathy, reducing body, X-linked, early-onset, severe[3]This link leads to a site outside Genetics Home Reference.
  • X-linked dominant scapuloperoneal myopathy[1]This link leads to a site outside Genetics Home Reference.
  • X-linked myopathy with postural muscle atrophy[2]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]
[3]
[4]

Where is the FHL1 gene located?

Cytogenetic Location: Xq26

Molecular Location on the X chromosome: base pairs 136,146,701 to 136,211,358

The FHL1 gene is located on the long (q) arm of the X chromosome at position 26.

The FHL1 gene is located on the long (q) arm of the X chromosome at position 26.

More precisely, the FHL1 gene is located from base pair 136,146,701 to base pair 136,211,358 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FHL1?

You and your healthcare professional may find the following resources about FHL1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FHL1 gene or gene products?

  • FHL-1
  • FHL1A
  • FHL1B
  • FLH1A
  • KYOT
  • SLIM
  • SLIM1
  • SLIM-1
  • SLIMMER
  • XMPMA

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding FHL1?

Achilles tendon ; atom ; atrophy ; biopsy ; cardiomyopathy ; cell ; dehydrogenase ; foot drop ; gene ; hypertrophy ; inclusion bodies ; isoforms ; muscular dystrophy ; progressive muscular dystrophy ; protein ; proximal ; respiratory ; tendon ; tissue ; transcript ; wasting ; X-linked dominant

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: April 17, 2014