Table 1.
Differentially Expressed Genes in the Heart in HCM
| Gene | Symbol | Accession # | Locus | # of Clone |
|---|---|---|---|---|
| Sarcomeric | ||||
| Skeletal muscle α-actin | ACTA1 | J00068 | 1q42.13–q42.2 | 12 |
| Myosin light chain 2a | LOC58498 | M94547 | 7p11.21–p11.2 | 7 |
| Myosin light chain 2v | MYL2v | AF020768 | 12q23–q24.3 | 7 |
| β-myosin heavy chain | MYL7 | M58018 | 14q2 | 3 |
| α-myosin heavy chain | MYH6 | D00943 | 14q2 | 2 |
| Skeletal fast myosin light chain 2 | MLC2B | M21812 | ? | 1 |
| Myosin, light chain 3, alkali | MYL3 | M24122 | 3p21.3–p21.2 | 1 |
| Sarcosin | SARCOSIN | AF056929 | ? | 1 |
| Cytoskeletal | ||||
| Four-and-a-half LIM protein 1 | FHL1 | U29538 | Xq26 | 2 |
| SLIMMER | SLIMMER | AF063002 | Xq26 | 2 |
| Skeletal muscle α 2 actinin | ACTN2 | M86406 | 1q42–q43 | 2 |
| Nebulin-related protein | NRAP | U96486 | 10q24–q26 | 1 |
| Desmin | DES | M63391 | 2q35 | 1 |
| Protein synthesis | ||||
| Transcription elongation fac 1α1 | EEF1A1 | X03558 | 6q14 | 4 |
| A+U-rich element RNA binding factor | HNRPDL | D89678 | 4q13–21 | 2 |
| Mitochondrial ribosomal RNA | MTRNR1 | S64650 | mitochondrion | 2 |
| Mitochondrial ribosomal RNA | 16S rRNA | X93334 | mitochondrion | 1 |
| Ribosomal protein S4X | RPS4X | M58458 | Xq13.1 | 1 |
| Ribosomal protein L31 | RPL31 | X15940 | 2 | 1 |
| Ribosomal protein L24 | RPL24 | M94314 | 3q | 1 |
| Redox system | ||||
| NADH ubiquinone oxidoreductase | NDUFB10 | AF088991 | 16 | 3 |
| Ubiquinol-cytochrome c reductase core I | UQCRC1 | D26485 | 3p21.3 | 3 |
| NADH dehydrogenase Fe-S protein 1 | NDUFS1 | X61100 | 2q33–q34 | 1 |
| Ion channels | ||||
| Voltage-dependent anion channel 1 | VDAC1 | L06132 | 5q31 | 1 |
| Na+/H+ exchanger isoform 1 | SLC9A1 | S68616 | 1p36.1–p35 | 1 |
| Solute carrier family 25, Member 3-1a | SLC25A3 | X77337 | 12q23 | 1 |
| Extracellular matrix | ||||
| α-1 (I) chain of procollagen type I | COL1A1 | AF017178 | 17q21.3–q22 | 1 |
| Intracellular signal transduction | ||||
| GTP-binding protein Gs α subunit | GNAS1 | X07036 | 20q13.2–q13.3 | 1 |
| Others and unknowns | ||||
| Heat shock 70kD protein 8 | HSPA8 | Y00371 | 11q23.3–q25 | 2 |
| Smooth muscle myosin light chain 2 | MYRL2 | J02854 | 20 | 2 |
| Nonsarcomeric MLC-regulatory | MLCB | X54304 | 18 | 2 |
| B-type natriuretic peptide precursor | BNNP | M25296 | 1p36.2 | 1 |
| Myoglobin gene | MB | X00372 | 22q13.1 | 1 |
| HSPC040 (CGI-129) | LOC51660 | AF151887 | 6 | 1 |
| Chromosome 1 open reading frame 8 | C1ORF8 | AF047439 | 1p36–p31 | 1 |
HCM = hypertrophic cardiomyopathy.