1. Gene
  2. APCDD1 - APC down-regulated 1 Gene

APCDD1 - APC down-regulated 1 Gene

Homo sapiens

Also known as HHS; HTS; B7323; HYPT1; DRAPC1; FP7019

Gene ID: 147495 | Gene type: protein coding

About APCDD1

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:10,454,635-10,489,949 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in skin (RPKM 30.0), fat (RPKM 14.2) and 13 other tissues.

Summary

This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]

APCDD1 Products(1)

mRNA Protein Name
NM_153000.5 NP_694545.1 protein APCDD1 precursor

APCDD1 Protein Structure

APCDDC

APCDDC: Adenomatosis polyposis coli down-regulated 1 (51 - 282)

APCDDC

APCDDC: Adenomatosis polyposis coli down-regulated 1 (290 - 467)

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  • 514 a.a.
Protein Preferred Names Protein Names

protein APCDD1

adenomatosis polyposis coli down-regulated 1 protein

Recombinant APCDD1 Proteins

Cat. No. Product Name Accession Purity
HY-P76154 APCDD1 Protein, Human (HEK293, Fc) NP_694545.1 (L27-G486) ≥95%

Related Diseases

Diseases Alias
Hypotrichosis 1

HYPT1

Hhs

Hts

Hypotrichosis Simplex

Hypotrichosis Simplex, Generalized, Hereditary

Hereditary Generalized Hypotrichosis Simplex

Generalized Hypothricosis Simplex

Hypotrichosis Simplex Hereditary

Hypotrichosis, Type 1

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Hypotrichosis
Periosteal Chondrosarcoma

Juxtacortical Chondrosarcoma

Solitary Median Maxillary Central Incisor

SMMCI

Fused Incisors

Single Upper Central Incisor

Single Central Maxillary Incisor

Single Median Maxillary Central Incisor

Solitary Median Maxillary Central Incisor Syndrome

Incisors Fused

Incisors, Fused

Norrie Disease

Atrophia Bulborum Hereditaria

Episkopi Blindness

Pseudoglioma

ND

Norrie-Warburg Disease

Anderson-Warburg Syndrome

Fetal Iritis Syndrome

Norrie Syndrome

Norrie-Warburg Syndrome

Ndp

Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

Norrie'S Disease

Oligophrenia Microphthalmus

Pseudoglioma Congenita

Whitnall-Norman Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus APCDD1 VGNC VGNC:26007
Canis familiaris APCDD1 VGNC VGNC:37980
Macaca mulatta APCDD1 VGNC VGNC:104215
Felis catus APCDD1 VGNC VGNC:59846
Rattus norvegicus APCDD1 RGD RGD:1589962
Mus musculus APCDD1 MGD MGI:3513977
Others APCDD1 NCBI