SAMD4A
Description
The SAMD4A (sterile alpha motif domain containing 4A) is a protein-coding gene located on chromosome 14.
SAMD4A is a human protein encoded by the SAMD4A gene. It contains sterile alpha motifs (SAMs), which are part of an RNA-binding domain that functions as a posttranscriptional regulator. SAMD4A binds to the Smaug recognition element (SRE), a specific RNA sequence motif, and acts as a translational repressor. The SRE motif was named after the Drosophila Smaug protein, which also contains SAM domains and functions as an RNA-binding protein.
SAMD4A acts as a translational repressor by binding to SRE (Smaug recognition element) sequences in messenger RNA (mRNA).
SAMD4A is also known as SAMD4, SMAUG, SMAUG1, SMG, SMGA.
Associated Diseases
- lip and oral cavity carcinoma
- osteomesopyknosis
- autosomal recessive spondylocostal dysostosis
- LIPE-related familial partial lipodystrophy
- PLIN1-related familial partial lipodystrophy
- familial partial lipodystrophy, Dunnigan type
- idiopathic juvenile osteoporosis
- PPARG-related familial partial lipodystrophy
- Scheuermann disease
- brachyolmia type 1, toledo type
