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DLX4

Chr 17q21.33

distal-less homeobox 4

Aliases:
DLX8, BP1
MANE:
ENST00000240306.5
OMIM: 601911 ↗NCBI: 1748 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • orofacial cleft 15

    0.44

  • cleft lip

    0.38

  • cleft palate

    0.37

  • cleft lip/palate

    0.37

  • hair color

    0.34

  • keloid

    0.25

  • autoimmune disorder of musculoskeletal system

    0.24

  • prostate carcinoma

    0.11

  • neoplasm

    0.10

  • MODY

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Homeobox protein DLX-4

May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.