SOHLH2 is a 425 amino acid nuclear protein that contains one basic helix-loop-helix (bHLH) domain through which it may function as a transcription factor during oogenesis and spermatogenesis. SOHLH2 exists as two alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 13q13.3. Chromosome 13 houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
Function:
Sohlh2, spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2, is a basic loop helix transcription factor. Sohlh2 is normally expressed in pre-meiotic germ cells and testis and involved in spermatogenesis and oogenesis. Male Sohlh2 deficient mice are infertile due to a block in spermatogenesis.
Subcellular Location:
Nuclear
Similarity:
Contains 1 bHLH (basic helix-loop-helix) domain.
SWISS:
Q9NX45
Gene ID:
100526761
Database links:
Entrez Gene: 100526761 Human
Entrez Gene: 54937 Human
SwissProt: Q9NX45 Human
Unigene: 124519 Human
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