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PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1

PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1

Alternative titles; symbolsT CELL DEATH-ASSOCIATED GENE 51; TDAG51HGNC Approved Gene Symbol: PHLDA1Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38)...

Alternative titles; symbols

  • T CELL DEATH-ASSOCIATED GENE 51; TDAG51

HGNC Approved Gene Symbol: PHLDA1

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:76,025,446-76,031,775 (from NCBI)

▼ Cloning and Expression

Expansions of trinucleotide repeats in noncoding and coding sequences are associated with a number of disorders. (CAG)n repeats have been observed in several neurologic disorders involving neuronal degeneration. In myotonic dystrophy (see 160900), a repeat size of 5 is the most common normal allele and can expand to a pathogenic range. By screening a brain cDNA library for clones having 5 or more tandem CAG repeats, as seen in myotonic dystrophy, Reddy et al. (1997) identified a cDNA encoding PHLDA1, which they called DT1P1B11. Northern blot analysis indicated that the PHLDA1 gene is expressed as a 6.6-kb transcript.

▼ Gene Function

Hossain et al. (2003) reported that several endoplasmic reticulum stress-inducing agents, including homocysteine, dithiothreitol, and tunicamycin, induced expression of TDAG51 in cultured human vascular endothelial cells. Overexpression of TDAG51 elicited significant changes in cell morphology, decreased cell adhesion, and promoted detachment-mediated apoptosis. Tdag51 expression was increased and correlated with apoptosis in atherosclerotic lesions from Apoe (107741)-null mice fed hyperhomocysteinemic diets. The authors concluded that TDAG51 is induced by homocysteine, promotes detachment-mediated apoptosis, and contributes to the development of atherosclerosis in hyperhomocysteinemia.

▼ Mapping

By radiation hybrid analysis, Reddy et al. (1997) mapped the PHLDA1 gene to 12q21.2. Kuske and Johnson (2000) mapped the PHLDA1 gene to 12q15 by radiation hybrid analysis.

Tags: 12q21.2