klhl24b

ID

ZDB-GENE-040426-1185

Name

kelch-like family member 24b

Symbol

klhl24b Nomenclature History

Previous Names

sb:eu993
zgc:63606

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and familial hypertrophic cardiomyopathy. Orthologous to human KLHL24 (kelch like family member 24).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu993 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With klhl24b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	620236
		Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy	617294

Associated With klhl24b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000210	BTB/POZ domain
Domain	IPR011705	BTB/Kelch-associated
Domain	IPR030596	Kelch-like protein 24, BTB/POZ domain
Homologous_superfamily	IPR011333	SKP1/BTB/POZ domain superfamily
Homologous_superfamily	IPR015915	Kelch-type beta propeller
Repeat	IPR006652	Kelch repeat type 1