Target intelligence / Profile preview

SPATA31 subfamily E member 1 (SPATA31E1)

Target
SPATA31E1
Molecular classification
Other (Protein coding; member of SPATA31 family)
01

Overview

SPATA31 subfamily E member 1 (SPATA31E1) is a protein predicted to function in the process of spermatogenesis and may be involved in cell differentiation[1][7][5]. The gene is located on chromosome 9 and is primarily expressed in testis, with some evidence for germ cell-specific expression in human testis based on localization studies[5]. The molecular function of the protein has not been experimentally determined, and there is no evidence that it acts as a receptor, enzyme, transporter, transcription factor, or functions in signal transduction. Its relevance to disease and therapeutic intervention has not been established, with only limited association data linking variants to neurodegenerative disease. The provided abbreviation "ENSG00000251545" is not the official gene identifier for this protein, and LOC100289470 may reflect a computational annotation rather than a validated protein-coding gene.

Other names
SPATA31E1C9orf79FAM75E1LOC100289470
02

Mechanism of action

Null

03

Biological functions

SpermatogenesisCell differentiation
04

Disease associations

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (associated, not causative)Most biological or clinical roles not established; additional roles plausible but currently uncharacterized.

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