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  2. APCDD1 - APC down-regulated 1 Gene

APCDD1 - APC down-regulated 1 Gene

中文名称:APC 下调 1

种属: Homo sapiens

同用名: HHS; HTS; B7323; HYPT1; DRAPC1; FP7019

基因 ID: 147495 | 基因类型: protein coding

关于 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.

功能概要

该基因座编码 Wnt 信号通路的抑制剂。该位点的突变与遗传性单纯性少毛症有关。该基因表达增加也可能与结直肠癌发生有关。[RefSeq 提供,2010 年 9 月]

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 基因产物(1)

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

APCDD1 蛋白结构

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.
蛋白主名 其他名称

protein APCDD1

adenomatosis polyposis coli down-regulated 1 protein

重组 APCDD1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76154 APCDD1 Protein, Human (HEK293, Fc) Q8J025/NP_694545.1 (L27-G486) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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