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- Table of Contents
Facts about Puratrophin-1.
Human | |
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Gene Name: | PLEKHG4 |
Uniprot: | Q58EX7 |
Entrez: | 25894 |
Belongs to: |
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No superfamily |
ARHGEF44; DKFZP434I216; PH domain-containing family G member 4; pleckstrin homology domain containing, family G (with RhoGef domain) member 4; Pleckstrin homology domain-containing family G member 4; PRTPHN1; puratrophin-1; Purkinje cell atrophy associated protein 1; Purkinje cell atrophy-associated protein 1; SCA4; spinocerebellar ataxia 4
Mass (kDA):
130.803 kDA
Human | |
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Location: | 16q22.1 |
Sequence: | 16; NC_000016.10 (67277820..67289500) |
Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.
PMID: 16001362 by Ishikawa K., et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
PMID: 17611710 by Amino T., et al. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.