GDAP2
entrez
54834
canonical
uniprot
Q9NXN4
canonical
ensembl
ENSG00000196505
resolver
ensp
ENSP00000358450
resolver
ensp
ENSP00000358451
resolver
genesymbol
GDAP2
resolver
hgnc
HGNC:18010
resolver
uniprot
Q96DZ0
resolver
uniprot_entry
GDAP2_HUMAN
resolver
uniprot_sec
Q96DZ0
resolver
amino_acid_sequence
MDPLGAPSQFVDVDTLPSWGDSCQDELNSSDTTAEIFQEDTVRSPFLYNKDVNGKVVLWKGDVALLNCTAIVNTSNESLTDKNPVSESIFMLAGPDLKEDLQKLKGCRTGEAKLTKGFNLAARFIIHTVGPKYKSRYRTAAESSLYSCYRNVLQLAKEQSMSSVGFCVINSAKRGYPLEDATHIALRTVRRFLEIHGETIEKVVFAVSDLEEGTYQKLLPLYFPRSLKEENRSLPYLPADIGNAEGEPVVPERQIRISEKPGAPEDNQEEEDEGLGVDLSFIGSHAFARMEGDIDKQRKLILQGQLSEAALQKQHQRNYNRWLCQARSEDLSDIASLKALYQTGVDNCGRTVMVVVGRNIPVTLIDMDKALLYFIHVMDHIAVKEYVLVYFHTLTSEYNHLDSDFLKKLYDVVDVKYKRNLKAVYFVHPTFRSKVSTWFFTTFSVSGLKDKIHHVDSLHQLFSAISPEQIDFPPFVLEYDARENGPYYTSYPPSPDL
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27) [MIM:618369]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. {ECO:0000269|PubMed:30084953}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
56225
uniprot
proteins
protein_family
GDAP2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30084953
uniprot
proteins
sequence_length
497
uniprot
proteins