Gene: [12q241/ASCL1] achaete-scute complex (Drosophila)-like transcription factor 1; [ASH1 ]
COM | [1]
Twells-1995 genetically mapped ASCL1 to 12q24.1 by using a CAG repeat
polymorphism within the gene and a CEPH pedigree DNA panel and subsequently
ruled out ASCL1 and NOS1 as candidates for spinocerebellar atrophy type 2
(GEM:12q241/SCA2). [2] In patients with spinocerebellar ataxia 2 Pulst-1996 identified a (CAG)n repeat located in the 5-prime end of the coding region of the SCA2 gene." |
FAG | Another ASCL homolog is mapped to Chr 11p: GEM:11p155/ASCL2. |
REF | LOC,CLO,EXP "Ball DW
&: PNAS, 90, 5648-5652, 1993 CLO,SEQ,STR,LOC,MUT "Pulst S-M &: Nature Genet, 14, 269-276, 1996 PRO,LOC,LIN "Renault B &: Genomics, 30, 81-83, 1995 LIN,MAG,ASS "Twells R &: AJHG, 56, 336-337, 1995 |
SWI | SWISSPROT: P50553 |
KEY | onc, trc |
CLA | coding, basic |
LOC | 12 q24.1 |
MIM | MIM: 100790 |
SYN | ASH1 |
