LOXHD1 (Gene)

Organism:

Homo sapiens

Synonyms:DFNB77, ENTREZ:125336, HGNC:26521, LH2D1, LOXHD1, MIM:613072, NM_001145472, NM_001145473, NM_001173129, NM_001308013, NM_001384474, NM_144612, NP_001138944, NP_001138945, NP_001166600, NP_001294942, NP_001371403, NP_653213, XM_006722388, XM_006722389, XM_006722390, XM_006722391, XM_011525804, XM_011525810, XM_011525811, XM_017025548, XM_024451084, XM_024451085, XM_024451086, XM_024451087, XM_024451088, XP_006722451, XP_006722452, XP_006722453, XP_006722454, XP_011524106, XP_011524112, XP_011524113, XP_016881037, XP_024306852, XP_024306853, XP_024306854, XP_024306855, XP_024306856, lipoxygenase homology PLAT domains 1

Omim:OMIM:613072

Id:ENSG00000167210

Hgnc:HGNC:26521

Entrez:125336

Ensembl:ENSG00000167210

Description:lipoxygenase homology PLAT domains 1

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

Analyze

CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View LOXHD1's neighborhood in the knowledge graph.

Submit

Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with LOXHD1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using LOXHD1.

Submit

GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for LOXHD1.

Submit

Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with LOXHD1.

Results found

Linked to

	Label	Description
	GSE120612 6 V 5 ETOPOSIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE207410 GSE207411 ARID1A knockdown 5 v 3 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE111247 temozolomide LN-308 0 v 6 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE76425 0 V 12 LENALIDOMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE185519 3 V 7 GILTERITINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE176008 pyridoxine 4 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE217776 GSE217829 MLL SGF29 CSNK2A1 knockout U-937 1 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE207514,GSE207515 2 V 3 ACETYLCYSTEINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE218060 decitabine T cell 1 v 4 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE176008 pyridoxine 7 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS

GSE120612 6 V 5 ETOPOSIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE207410 GSE207411 ARID1A knockdown 5 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE111247 temozolomide LN-308 0 v 6 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE76425 0 V 12 LENALIDOMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE185519 3 V 7 GILTERITINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE176008 pyridoxine 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE217776 GSE217829 MLL SGF29 CSNK2A1 knockout U-937 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE207514,GSE207515 2 V 3 ACETYLCYSTEINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE218060 decitabine T cell 1 v 4 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE176008 pyridoxine 7 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

DISPLAY PER PAGE

CFDE Workbench

Consortium

Community

Resources

@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.