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FHL1 four and a half LIM domains 1

Gene ID: 2273, updated on 11-Jul-2021
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]

Genomic context

Location:
Xq26.3
Sequence:
Chromosome: X; NC_000023.11 (136146702..136211359)
Total number of exons:
17

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