Gene Symbol | CSRP3 |
Entrez Gene ID | 8048 |
Full Name | cysteine and glycine rich protein 3 |
Synonyms | CLP,CMD1M,CMH12,CRP3,LMO4,MLP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3) |