ACTL7B Products

Description

ACTL7B is encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known.

Bioinformatics

Entrez	10880 Human 11471 Mouse 313183 Rat
Uniprot	Q9Y614 Human NP_006677 Human NP_006677.1 Human NM_006686 Human Q4QR76 Rat
Product By Gene ID	10880
Alternate Names	Actin-like-7-beta actin-like-7-beta actin-like protein 7B actin-like 7-beta Tact1 actin-like 7B

Diseases related to ACTL7B

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Segmental Glomerulosclerosis
Hypertensive Disease
Dysautonomia, Familial
Renal Hypertension
Dysautonomia
Proteinuria Of Undiagnosed Cause
Kidney Diseases
Kidney Failure, Chronic
Focal Glomerulosclerosis
Glomerulosclerosis (disorder)
Hypertensive Nephropathy

Pathways for ACTL7B

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Methylation
Demethylation

Research Areas for ACTL7B

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Chromatin Research

PTMs for ACTL7B

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Methylation

Bioinformatics Tool for ACTL7B

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