Name

ATXN1 Gene

ataxin 1

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

ATXN1L Gene

ataxin 1-like

ATXN10 Gene

ataxin 10

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

atxn1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term atxn1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ATXN1 Gene Set

From Hub Proteins Protein-Protein Interactions

interacting proteins for hub protein ATXN1 from the curated Hub Proteins Protein-Protein Interactions dataset.

ATXN1 Gene Set

From NURSA Protein-Protein Interactions

interacting proteins for ATXN1 from the NURSA Protein-Protein Interactions dataset.

ATXN1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for ATXN1 from the Pathway Commons Protein-Protein Interactions dataset.

atxn10 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term atxn10 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

BL4557 (ATXN10) Gene Set

From NURSA Protein Complexes

proteins in the BL4557 (ATXN10) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

BL4726 (ATXN1) Gene Set

From NURSA Protein Complexes

proteins in the BL4726 (ATXN1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

BL4554 (ATXN10) Gene Set

From NURSA Protein Complexes

proteins in the BL4554 (ATXN10) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

ATXN1L Gene Set

From NURSA Protein-Protein Interactions

interacting proteins for ATXN1L from the NURSA Protein-Protein Interactions dataset.

ATXN1L Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for ATXN1L from the Pathway Commons Protein-Protein Interactions dataset.

ATXN10 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for ATXN10 from the Pathway Commons Protein-Protein Interactions dataset.