FHL1 four and a half LIM domains 1

Gene ID: 2273, updated on 5-May-2024
Gene type: protein coding
Also known as: KYOT; SLIM; FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; SLIM1; XMPMA; RBMX1A; RBMX1B; SLIM-1; SLIMMER

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Myopathy, reducing body, X-linked, childhood-onset MedGen: C4225159OMIM: 300718GeneReviews: Not available	See labs
Myopathy, reducing body, X-linked, early-onset, severe MedGen: C4225423OMIM: 300717GeneReviews: Not available	See labs
Uruguay Faciocardiomusculoskeletal syndrome MedGen: C1846010OMIM: 300280GeneReviews: Not available	See labs
X-linked myopathy with postural muscle atrophy MedGen: C2678055OMIM: 300696GeneReviews: Emery-Dreifuss Muscular Dystrophy	See labs
X-linked scapuloperoneal muscular dystrophy MedGen: C2678061OMIM: 300695GeneReviews: Not available	See labs

Genomic context

Location:: Xq26.3

Sequence:: Chromosome: X; NC_000023.11 (136146702..136211359)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FHL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FHL1 homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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